Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729200_3729265del | CA2631403618 | CREBBP | c.5790_5855del (p.Thr1931_Pro1952del) c.5676_5741del (p.Thr1893_Pro1914del) c.5745_5810del (p.Thr1916_Pro1937del) c.5373_5438del (p.Thr1792_Pro1813del) c.5529_5594del (p.Thr1844_Pro1865del) c.5736_5801del (p.Thr1913_Pro1934del) c.5037_5102del (p.Thr1680_Pro1701del) c.5784_5849del (p.Thr1929_Pro1950del) | gnomAD v4 |
16 | g.3729212_3729246del | CA2631403623 | CREBBP | c.5805_5839del (p.Gly1936ProfsTer18) c.5691_5725del (p.Gly1898ProfsTer18) c.5760_5794del (p.Gly1921ProfsTer18) c.5388_5422del (p.Gly1797ProfsTer18) c.5544_5578del (p.Gly1849ProfsTer18) c.5751_5785del (p.Gly1918ProfsTer18) c.5052_5086del (p.Gly1685ProfsTer18) c.5799_5833del (p.Gly1934ProfsTer18) | gnomAD v4 |
16 | g.3729226G>A | CA271429 | CREBBP | c.5821C>T (p.Gln1941Ter) c.5707C>T (p.Gln1903Ter) c.5776C>T (p.Gln1926Ter) c.5404C>T (p.Gln1802Ter) c.5560C>T (p.Gln1854Ter) c.5767C>T (p.Gln1923Ter) c.5068C>T (p.Gln1690Ter) c.5815C>T (p.Gln1939Ter) | ClinVar dbSNP |
16 | g.3729226G>C | CA394555369 | CREBBP | c.5821C>G (p.Gln1941Glu) c.5707C>G (p.Gln1903Glu) c.5776C>G (p.Gln1926Glu) c.5404C>G (p.Gln1802Glu) c.5560C>G (p.Gln1854Glu) c.5767C>G (p.Gln1923Glu) c.5068C>G (p.Gln1690Glu) c.5815C>G (p.Gln1939Glu) | |
16 | g.3729226G= | CA2202916304 | CREBBP | c.5821C= (p.Gln1941=) c.5707C= (p.Gln1903=) c.5776C= (p.Gln1926=) c.5404C= (p.Gln1802=) c.5560C= (p.Gln1854=) c.5767C= (p.Gln1923=) c.5068C= (p.Gln1690=) c.5815C= (p.Gln1939=) | |
16 | g.3729226G>T | CA394555372 | CREBBP | c.5821C>A (p.Gln1941Lys) c.5707C>A (p.Gln1903Lys) c.5776C>A (p.Gln1926Lys) c.5404C>A (p.Gln1802Lys) c.5560C>A (p.Gln1854Lys) c.5767C>A (p.Gln1923Lys) c.5068C>A (p.Gln1690Lys) c.5815C>A (p.Gln1939Lys) | gnomAD v4 |
16 | g.3729227G>A | CA493393949 | CREBBP | c.5820C>T (p.Ser1940=) c.5706C>T (p.Ser1902=) c.5775C>T (p.Ser1925=) c.5403C>T (p.Ser1801=) c.5559C>T (p.Ser1853=) c.5766C>T (p.Ser1922=) c.5067C>T (p.Ser1689=) c.5814C>T (p.Ser1938=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729227G>C | CA394555377 | CREBBP | c.5820C>G (p.Ser1940Arg) c.5706C>G (p.Ser1902Arg) c.5775C>G (p.Ser1925Arg) c.5403C>G (p.Ser1801Arg) c.5559C>G (p.Ser1853Arg) c.5766C>G (p.Ser1922Arg) c.5067C>G (p.Ser1689Arg) c.5814C>G (p.Ser1938Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729227G= | CA2202916305 | CREBBP | c.5820C= (p.Ser1940=) c.5706C= (p.Ser1902=) c.5775C= (p.Ser1925=) c.5403C= (p.Ser1801=) c.5559C= (p.Ser1853=) c.5766C= (p.Ser1922=) c.5067C= (p.Ser1689=) c.5814C= (p.Ser1938=) | |
16 | g.3729227G>T | CA394555375 | CREBBP | c.5820C>A (p.Ser1940Arg) c.5706C>A (p.Ser1902Arg) c.5775C>A (p.Ser1925Arg) c.5403C>A (p.Ser1801Arg) c.5559C>A (p.Ser1853Arg) c.5766C>A (p.Ser1922Arg) c.5067C>A (p.Ser1689Arg) c.5814C>A (p.Ser1938Arg) | dbSNP gnomAD v4 |
16 | g.3729228C>A | CA394555379 | CREBBP | c.5819G>T (p.Ser1940Ile) c.5705G>T (p.Ser1902Ile) c.5774G>T (p.Ser1925Ile) c.5402G>T (p.Ser1801Ile) c.5558G>T (p.Ser1853Ile) c.5765G>T (p.Ser1922Ile) c.5066G>T (p.Ser1689Ile) c.5813G>T (p.Ser1938Ile) | dbSNP gnomAD v4 |
16 | g.3729228C>G | CA394555381 | CREBBP | c.5819G>C (p.Ser1940Thr) c.5705G>C (p.Ser1902Thr) c.5774G>C (p.Ser1925Thr) c.5402G>C (p.Ser1801Thr) c.5558G>C (p.Ser1853Thr) c.5765G>C (p.Ser1922Thr) c.5066G>C (p.Ser1689Thr) c.5813G>C (p.Ser1938Thr) | dbSNP |
16 | g.3729228C>T | CA394555383 | CREBBP | c.5819G>A (p.Ser1940Asn) c.5705G>A (p.Ser1902Asn) c.5774G>A (p.Ser1925Asn) c.5402G>A (p.Ser1801Asn) c.5558G>A (p.Ser1853Asn) c.5765G>A (p.Ser1922Asn) c.5066G>A (p.Ser1689Asn) c.5813G>A (p.Ser1938Asn) | dbSNP |
16 | g.3729229T>A | CA394555385 | CREBBP | c.5818A>T (p.Ser1940Cys) c.5704A>T (p.Ser1902Cys) c.5773A>T (p.Ser1925Cys) c.5401A>T (p.Ser1801Cys) c.5557A>T (p.Ser1853Cys) c.5764A>T (p.Ser1922Cys) c.5065A>T (p.Ser1689Cys) c.5812A>T (p.Ser1938Cys) | COSMIC |
16 | g.3729229T>C | CA394555387 | CREBBP | c.5818A>G (p.Ser1940Gly) c.5704A>G (p.Ser1902Gly) c.5773A>G (p.Ser1925Gly) c.5401A>G (p.Ser1801Gly) c.5557A>G (p.Ser1853Gly) c.5764A>G (p.Ser1922Gly) c.5065A>G (p.Ser1689Gly) c.5812A>G (p.Ser1938Gly) | |
16 | g.3729229T>G | CA394555388 | CREBBP | c.5818A>C (p.Ser1940Arg) c.5704A>C (p.Ser1902Arg) c.5773A>C (p.Ser1925Arg) c.5401A>C (p.Ser1801Arg) c.5557A>C (p.Ser1853Arg) c.5764A>C (p.Ser1922Arg) c.5065A>C (p.Ser1689Arg) c.5812A>C (p.Ser1938Arg) | |
16 | g.3729230G>A | CA493393953 | CREBBP | c.5817C>T (p.Thr1939=) c.5703C>T (p.Thr1901=) c.5772C>T (p.Thr1924=) c.5400C>T (p.Thr1800=) c.5556C>T (p.Thr1852=) c.5763C>T (p.Thr1921=) c.5064C>T (p.Thr1688=) c.5811C>T (p.Thr1937=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729230G>C | CA493393955 | CREBBP | c.5817C>G (p.Thr1939=) c.5703C>G (p.Thr1901=) c.5772C>G (p.Thr1924=) c.5400C>G (p.Thr1800=) c.5556C>G (p.Thr1852=) c.5763C>G (p.Thr1921=) c.5064C>G (p.Thr1688=) c.5811C>G (p.Thr1937=) | |
16 | g.3729230G= | CA2202916306 | CREBBP | c.5817C= (p.Thr1939=) c.5703C= (p.Thr1901=) c.5772C= (p.Thr1924=) c.5400C= (p.Thr1800=) c.5556C= (p.Thr1852=) c.5763C= (p.Thr1921=) c.5064C= (p.Thr1688=) c.5811C= (p.Thr1937=) | |
16 | g.3729230G>T | CA493393956 | CREBBP | c.5817C>A (p.Thr1939=) c.5703C>A (p.Thr1901=) c.5772C>A (p.Thr1924=) c.5400C>A (p.Thr1800=) c.5556C>A (p.Thr1852=) c.5763C>A (p.Thr1921=) c.5064C>A (p.Thr1688=) c.5811C>A (p.Thr1937=) | ClinVar |
16 | g.3729231G>A | CA394555390 | CREBBP | c.5816C>T (p.Thr1939Ile) c.5702C>T (p.Thr1901Ile) c.5771C>T (p.Thr1924Ile) c.5399C>T (p.Thr1800Ile) c.5555C>T (p.Thr1852Ile) c.5762C>T (p.Thr1921Ile) c.5063C>T (p.Thr1688Ile) c.5810C>T (p.Thr1937Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729231G>C | CA394555394 | CREBBP | c.5816C>G (p.Thr1939Ser) c.5702C>G (p.Thr1901Ser) c.5771C>G (p.Thr1924Ser) c.5399C>G (p.Thr1800Ser) c.5555C>G (p.Thr1852Ser) c.5762C>G (p.Thr1921Ser) c.5063C>G (p.Thr1688Ser) c.5810C>G (p.Thr1937Ser) | dbSNP |
16 | g.3729231G= | CA2202916307 | CREBBP | c.5816C= (p.Thr1939=) c.5702C= (p.Thr1901=) c.5771C= (p.Thr1924=) c.5399C= (p.Thr1800=) c.5555C= (p.Thr1852=) c.5762C= (p.Thr1921=) c.5063C= (p.Thr1688=) c.5810C= (p.Thr1937=) | |
16 | g.3729231G>T | CA394555392 | CREBBP | c.5816C>A (p.Thr1939Asn) c.5702C>A (p.Thr1901Asn) c.5771C>A (p.Thr1924Asn) c.5399C>A (p.Thr1800Asn) c.5555C>A (p.Thr1852Asn) c.5762C>A (p.Thr1921Asn) c.5063C>A (p.Thr1688Asn) c.5810C>A (p.Thr1937Asn) | dbSNP |
16 | g.3729232T>A | CA394555396 | CREBBP | c.5815A>T (p.Thr1939Ser) c.5701A>T (p.Thr1901Ser) c.5770A>T (p.Thr1924Ser) c.5398A>T (p.Thr1800Ser) c.5554A>T (p.Thr1852Ser) c.5761A>T (p.Thr1921Ser) c.5062A>T (p.Thr1688Ser) c.5809A>T (p.Thr1937Ser) | dbSNP |
16 | g.3729232T>C | CA394555398 | CREBBP | c.5815A>G (p.Thr1939Ala) c.5701A>G (p.Thr1901Ala) c.5770A>G (p.Thr1924Ala) c.5398A>G (p.Thr1800Ala) c.5554A>G (p.Thr1852Ala) c.5761A>G (p.Thr1921Ala) c.5062A>G (p.Thr1688Ala) c.5809A>G (p.Thr1937Ala) | dbSNP |
16 | g.3729232T>G | CA394555400 | CREBBP | c.5815A>C (p.Thr1939Pro) c.5701A>C (p.Thr1901Pro) c.5770A>C (p.Thr1924Pro) c.5398A>C (p.Thr1800Pro) c.5554A>C (p.Thr1852Pro) c.5761A>C (p.Thr1921Pro) c.5062A>C (p.Thr1688Pro) c.5809A>C (p.Thr1937Pro) | dbSNP gnomAD v4 |
16 | g.3729233del | CA2695222625 | CREBBP | c.5814del (p.Thr1939ProfsTer?) c.5700del (p.Thr1901ProfsTer?) c.5769del (p.Thr1924ProfsTer?) c.5397del (p.Thr1800ProfsTer?) c.5553del (p.Thr1852ProfsTer?) c.5760del (p.Thr1921ProfsTer?) c.5061del (p.Thr1688ProfsTer?) c.5808del (p.Thr1937ProfsTer?) | |
16 | g.3729233A>C | CA493393957 | CREBBP | c.5814T>G (p.Pro1938=) c.5700T>G (p.Pro1900=) c.5769T>G (p.Pro1923=) c.5397T>G (p.Pro1799=) c.5553T>G (p.Pro1851=) c.5760T>G (p.Pro1920=) c.5061T>G (p.Pro1687=) c.5808T>G (p.Pro1936=) | |
16 | g.3729233A>G | CA493393958 | CREBBP | c.5814T>C (p.Pro1938=) c.5700T>C (p.Pro1900=) c.5769T>C (p.Pro1923=) c.5397T>C (p.Pro1799=) c.5553T>C (p.Pro1851=) c.5760T>C (p.Pro1920=) c.5061T>C (p.Pro1687=) c.5808T>C (p.Pro1936=) | dbSNP |
16 | g.3729233A>T | CA493393959 | CREBBP | c.5814T>A (p.Pro1938=) c.5700T>A (p.Pro1900=) c.5769T>A (p.Pro1923=) c.5397T>A (p.Pro1799=) c.5553T>A (p.Pro1851=) c.5760T>A (p.Pro1920=) c.5061T>A (p.Pro1687=) c.5808T>A (p.Pro1936=) | dbSNP |
16 | g.3729234G>A | CA394555403 | CREBBP | c.5813C>T (p.Pro1938Leu) c.5699C>T (p.Pro1900Leu) c.5768C>T (p.Pro1923Leu) c.5396C>T (p.Pro1799Leu) c.5552C>T (p.Pro1851Leu) c.5759C>T (p.Pro1920Leu) c.5060C>T (p.Pro1687Leu) c.5807C>T (p.Pro1936Leu) | dbSNP gnomAD v4 |
16 | g.3729234G>C | CA394555404 | CREBBP | c.5813C>G (p.Pro1938Arg) c.5699C>G (p.Pro1900Arg) c.5768C>G (p.Pro1923Arg) c.5396C>G (p.Pro1799Arg) c.5552C>G (p.Pro1851Arg) c.5759C>G (p.Pro1920Arg) c.5060C>G (p.Pro1687Arg) c.5807C>G (p.Pro1936Arg) | dbSNP |
16 | g.3729234G>T | CA394555406 | CREBBP | c.5813C>A (p.Pro1938His) c.5699C>A (p.Pro1900His) c.5768C>A (p.Pro1923His) c.5396C>A (p.Pro1799His) c.5552C>A (p.Pro1851His) c.5759C>A (p.Pro1920His) c.5060C>A (p.Pro1687His) c.5807C>A (p.Pro1936His) | dbSNP COSMIC |
16 | g.3729235G>A | CA394555408 | CREBBP | c.5812C>T (p.Pro1938Ser) c.5698C>T (p.Pro1900Ser) c.5767C>T (p.Pro1923Ser) c.5395C>T (p.Pro1799Ser) c.5551C>T (p.Pro1851Ser) c.5758C>T (p.Pro1920Ser) c.5059C>T (p.Pro1687Ser) c.5806C>T (p.Pro1936Ser) | dbSNP gnomAD v4 |
16 | g.3729235G>C | CA394555410 | CREBBP | c.5812C>G (p.Pro1938Ala) c.5698C>G (p.Pro1900Ala) c.5767C>G (p.Pro1923Ala) c.5395C>G (p.Pro1799Ala) c.5551C>G (p.Pro1851Ala) c.5758C>G (p.Pro1920Ala) c.5059C>G (p.Pro1687Ala) c.5806C>G (p.Pro1936Ala) | dbSNP gnomAD v4 |
16 | g.3729235G>T | CA394555411 | CREBBP | c.5812C>A (p.Pro1938Thr) c.5698C>A (p.Pro1900Thr) c.5767C>A (p.Pro1923Thr) c.5395C>A (p.Pro1799Thr) c.5551C>A (p.Pro1851Thr) c.5758C>A (p.Pro1920Thr) c.5059C>A (p.Pro1687Thr) c.5806C>A (p.Pro1936Thr) | gnomAD v4 |
16 | g.3729236C>A | CA276972016 | CREBBP | c.5811G>T (p.Lys1937Asn) c.5697G>T (p.Lys1899Asn) c.5766G>T (p.Lys1922Asn) c.5394G>T (p.Lys1798Asn) c.5550G>T (p.Lys1850Asn) c.5757G>T (p.Lys1919Asn) c.5058G>T (p.Lys1686Asn) c.5805G>T (p.Lys1935Asn) | dbSNP gnomAD v4 |
16 | g.3729236C= | CA2202916308 | CREBBP | c.5811G= (p.Lys1937=) c.5697G= (p.Lys1899=) c.5766G= (p.Lys1922=) c.5394G= (p.Lys1798=) c.5550G= (p.Lys1850=) c.5757G= (p.Lys1919=) c.5058G= (p.Lys1686=) c.5805G= (p.Lys1935=) | |
16 | g.3729236C>G | CA394555415 | CREBBP | c.5811G>C (p.Lys1937Asn) c.5697G>C (p.Lys1899Asn) c.5766G>C (p.Lys1922Asn) c.5394G>C (p.Lys1798Asn) c.5550G>C (p.Lys1850Asn) c.5757G>C (p.Lys1919Asn) c.5058G>C (p.Lys1686Asn) c.5805G>C (p.Lys1935Asn) | dbSNP |
16 | g.3729236C>T | CA493393963 | CREBBP | c.5811G>A (p.Lys1937=) c.5697G>A (p.Lys1899=) c.5766G>A (p.Lys1922=) c.5394G>A (p.Lys1798=) c.5550G>A (p.Lys1850=) c.5757G>A (p.Lys1919=) c.5058G>A (p.Lys1686=) c.5805G>A (p.Lys1935=) | dbSNP |
16 | g.3729237T>A | CA394555420 | CREBBP | c.5810A>T (p.Lys1937Met) c.5696A>T (p.Lys1899Met) c.5765A>T (p.Lys1922Met) c.5393A>T (p.Lys1798Met) c.5549A>T (p.Lys1850Met) c.5756A>T (p.Lys1919Met) c.5057A>T (p.Lys1686Met) c.5804A>T (p.Lys1935Met) | |
16 | g.3729237T>C | CA394555418 | CREBBP | c.5810A>G (p.Lys1937Arg) c.5696A>G (p.Lys1899Arg) c.5765A>G (p.Lys1922Arg) c.5393A>G (p.Lys1798Arg) c.5549A>G (p.Lys1850Arg) c.5756A>G (p.Lys1919Arg) c.5057A>G (p.Lys1686Arg) c.5804A>G (p.Lys1935Arg) | dbSNP |
16 | g.3729237T>G | CA394555416 | CREBBP | c.5810A>C (p.Lys1937Thr) c.5696A>C (p.Lys1899Thr) c.5765A>C (p.Lys1922Thr) c.5393A>C (p.Lys1798Thr) c.5549A>C (p.Lys1850Thr) c.5756A>C (p.Lys1919Thr) c.5057A>C (p.Lys1686Thr) c.5804A>C (p.Lys1935Thr) | |
16 | g.3729238T>A | CA394555423 | CREBBP | c.5809A>T (p.Lys1937Ter) c.5695A>T (p.Lys1899Ter) c.5764A>T (p.Lys1922Ter) c.5392A>T (p.Lys1798Ter) c.5548A>T (p.Lys1850Ter) c.5755A>T (p.Lys1919Ter) c.5056A>T (p.Lys1686Ter) c.5803A>T (p.Lys1935Ter) | |
16 | g.3729238T>C | CA394555427 | CREBBP | c.5809A>G (p.Lys1937Glu) c.5695A>G (p.Lys1899Glu) c.5764A>G (p.Lys1922Glu) c.5392A>G (p.Lys1798Glu) c.5548A>G (p.Lys1850Glu) c.5755A>G (p.Lys1919Glu) c.5056A>G (p.Lys1686Glu) c.5803A>G (p.Lys1935Glu) | dbSNP |
16 | g.3729238T>G | CA394555425 | CREBBP | c.5809A>C (p.Lys1937Gln) c.5695A>C (p.Lys1899Gln) c.5764A>C (p.Lys1922Gln) c.5392A>C (p.Lys1798Gln) c.5548A>C (p.Lys1850Gln) c.5755A>C (p.Lys1919Gln) c.5056A>C (p.Lys1686Gln) c.5803A>C (p.Lys1935Gln) | |
16 | g.3729239C>A | CA493393967 | CREBBP | c.5808G>T (p.Gly1936=) c.5694G>T (p.Gly1898=) c.5763G>T (p.Gly1921=) c.5391G>T (p.Gly1797=) c.5547G>T (p.Gly1849=) c.5754G>T (p.Gly1918=) c.5055G>T (p.Gly1685=) c.5802G>T (p.Gly1934=) | |
16 | g.3729239C= | CA2202916309 | CREBBP | c.5808G= (p.Gly1936=) c.5694G= (p.Gly1898=) c.5763G= (p.Gly1921=) c.5391G= (p.Gly1797=) c.5547G= (p.Gly1849=) c.5754G= (p.Gly1918=) c.5055G= (p.Gly1685=) c.5802G= (p.Gly1934=) | |
16 | g.3729239C>G | CA493393968 | CREBBP | c.5808G>C (p.Gly1936=) c.5694G>C (p.Gly1898=) c.5763G>C (p.Gly1921=) c.5391G>C (p.Gly1797=) c.5547G>C (p.Gly1849=) c.5754G>C (p.Gly1918=) c.5055G>C (p.Gly1685=) c.5802G>C (p.Gly1934=) | dbSNP |
16 | g.3729239C>T | CA493393969 | CREBBP | c.5808G>A (p.Gly1936=) c.5694G>A (p.Gly1898=) c.5763G>A (p.Gly1921=) c.5391G>A (p.Gly1797=) c.5547G>A (p.Gly1849=) c.5754G>A (p.Gly1918=) c.5055G>A (p.Gly1685=) c.5802G>A (p.Gly1934=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729240C>A | CA394555432 | CREBBP | c.5807G>T (p.Gly1936Val) c.5693G>T (p.Gly1898Val) c.5762G>T (p.Gly1921Val) c.5390G>T (p.Gly1797Val) c.5546G>T (p.Gly1849Val) c.5753G>T (p.Gly1918Val) c.5054G>T (p.Gly1685Val) c.5801G>T (p.Gly1934Val) | |
16 | g.3729240C>G | CA394555434 | CREBBP | c.5807G>C (p.Gly1936Ala) c.5693G>C (p.Gly1898Ala) c.5762G>C (p.Gly1921Ala) c.5390G>C (p.Gly1797Ala) c.5546G>C (p.Gly1849Ala) c.5753G>C (p.Gly1918Ala) c.5054G>C (p.Gly1685Ala) c.5801G>C (p.Gly1934Ala) | |
16 | g.3729240C>T | CA394555433 | CREBBP | c.5807G>A (p.Gly1936Glu) c.5693G>A (p.Gly1898Glu) c.5762G>A (p.Gly1921Glu) c.5390G>A (p.Gly1797Glu) c.5546G>A (p.Gly1849Glu) c.5753G>A (p.Gly1918Glu) c.5054G>A (p.Gly1685Glu) c.5801G>A (p.Gly1934Glu) | dbSNP |
16 | g.3729241C>A | CA394555435 | CREBBP | c.5806G>T (p.Gly1936Trp) c.5692G>T (p.Gly1898Trp) c.5761G>T (p.Gly1921Trp) c.5389G>T (p.Gly1797Trp) c.5545G>T (p.Gly1849Trp) c.5752G>T (p.Gly1918Trp) c.5053G>T (p.Gly1685Trp) c.5800G>T (p.Gly1934Trp) | dbSNP |
16 | g.3729241C>G | CA394555438 | CREBBP | c.5806G>C (p.Gly1936Arg) c.5692G>C (p.Gly1898Arg) c.5761G>C (p.Gly1921Arg) c.5389G>C (p.Gly1797Arg) c.5545G>C (p.Gly1849Arg) c.5752G>C (p.Gly1918Arg) c.5053G>C (p.Gly1685Arg) c.5800G>C (p.Gly1934Arg) | dbSNP |
16 | g.3729241C>T | CA394555436 | CREBBP | c.5806G>A (p.Gly1936Arg) c.5692G>A (p.Gly1898Arg) c.5761G>A (p.Gly1921Arg) c.5389G>A (p.Gly1797Arg) c.5545G>A (p.Gly1849Arg) c.5752G>A (p.Gly1918Arg) c.5053G>A (p.Gly1685Arg) c.5800G>A (p.Gly1934Arg) | dbSNP |
16 | g.3729242T>A | CA493393974 | CREBBP | c.5805A>T (p.Thr1935=) c.5691A>T (p.Thr1897=) c.5760A>T (p.Thr1920=) c.5388A>T (p.Thr1796=) c.5544A>T (p.Thr1848=) c.5751A>T (p.Thr1917=) c.5052A>T (p.Thr1684=) c.5799A>T (p.Thr1933=) | dbSNP |
16 | g.3729242T>C | CA493393975 | CREBBP | c.5805A>G (p.Thr1935=) c.5691A>G (p.Thr1897=) c.5760A>G (p.Thr1920=) c.5388A>G (p.Thr1796=) c.5544A>G (p.Thr1848=) c.5751A>G (p.Thr1917=) c.5052A>G (p.Thr1684=) c.5799A>G (p.Thr1933=) | dbSNP |
16 | g.3729242T>G | CA493393976 | CREBBP | c.5805A>C (p.Thr1935=) c.5691A>C (p.Thr1897=) c.5760A>C (p.Thr1920=) c.5388A>C (p.Thr1796=) c.5544A>C (p.Thr1848=) c.5751A>C (p.Thr1917=) c.5052A>C (p.Thr1684=) c.5799A>C (p.Thr1933=) | dbSNP gnomAD v4 |
16 | g.3729242_3729251delinsTGTGGACACC | CA2202916310 | CREBBP | c.5796_5805delinsGGTGTCCACA (p.Thr1932=) c.5682_5691delinsGGTGTCCACA (p.Thr1894=) c.5751_5760delinsGGTGTCCACA (p.Thr1917=) c.5379_5388delinsGGTGTCCACA (p.Thr1793=) c.5535_5544delinsGGTGTCCACA (p.Thr1845=) c.5742_5751delinsGGTGTCCACA (p.Thr1914=) c.5043_5052delinsGGTGTCCACA (p.Thr1681=) c.5790_5799delinsGGTGTCCACA (p.Thr1930=) | |
16 | g.3729243G>A | CA394555440 | CREBBP | c.5804C>T (p.Thr1935Ile) c.5690C>T (p.Thr1897Ile) c.5759C>T (p.Thr1920Ile) c.5387C>T (p.Thr1796Ile) c.5543C>T (p.Thr1848Ile) c.5750C>T (p.Thr1917Ile) c.5051C>T (p.Thr1684Ile) c.5798C>T (p.Thr1933Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.3729243G>C | CA394555444 | CREBBP | c.5804C>G (p.Thr1935Arg) c.5690C>G (p.Thr1897Arg) c.5759C>G (p.Thr1920Arg) c.5387C>G (p.Thr1796Arg) c.5543C>G (p.Thr1848Arg) c.5750C>G (p.Thr1917Arg) c.5051C>G (p.Thr1684Arg) c.5798C>G (p.Thr1933Arg) | dbSNP gnomAD v4 |
16 | g.3729243G>T | CA394555442 | CREBBP | c.5804C>A (p.Thr1935Lys) c.5690C>A (p.Thr1897Lys) c.5759C>A (p.Thr1920Lys) c.5387C>A (p.Thr1796Lys) c.5543C>A (p.Thr1848Lys) c.5750C>A (p.Thr1917Lys) c.5051C>A (p.Thr1684Lys) c.5798C>A (p.Thr1933Lys) | dbSNP gnomAD v4 |
16 | g.3729247_3729255del | CA276972020 | CREBBP | c.5796_5804del (p.Val1933_Thr1935del) c.5682_5690del (p.Val1895_Thr1897del) c.5751_5759del (p.Val1918_Thr1920del) c.5379_5387del (p.Val1794_Thr1796del) c.5535_5543del (p.Val1846_Thr1848del) c.5742_5750del (p.Val1915_Thr1917del) c.5043_5051del (p.Val1682_Thr1684del) c.5790_5798del (p.Val1931_Thr1933del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729244T>A | CA394555445 | CREBBP | c.5803A>T (p.Thr1935Ser) c.5689A>T (p.Thr1897Ser) c.5758A>T (p.Thr1920Ser) c.5386A>T (p.Thr1796Ser) c.5542A>T (p.Thr1848Ser) c.5749A>T (p.Thr1917Ser) c.5050A>T (p.Thr1684Ser) c.5797A>T (p.Thr1933Ser) | dbSNP |
16 | g.3729244T>C | CA394555450 | CREBBP | c.5803A>G (p.Thr1935Ala) c.5689A>G (p.Thr1897Ala) c.5758A>G (p.Thr1920Ala) c.5386A>G (p.Thr1796Ala) c.5542A>G (p.Thr1848Ala) c.5749A>G (p.Thr1917Ala) c.5050A>G (p.Thr1684Ala) c.5797A>G (p.Thr1933Ala) | |
16 | g.3729244T>G | CA394555447 | CREBBP | c.5803A>C (p.Thr1935Pro) c.5689A>C (p.Thr1897Pro) c.5758A>C (p.Thr1920Pro) c.5386A>C (p.Thr1796Pro) c.5542A>C (p.Thr1848Pro) c.5749A>C (p.Thr1917Pro) c.5050A>C (p.Thr1684Pro) c.5797A>C (p.Thr1933Pro) | gnomAD v4 |
16 | g.3729245G>A | CA493393983 | CREBBP | c.5802C>T (p.Ser1934=) c.5688C>T (p.Ser1896=) c.5757C>T (p.Ser1919=) c.5385C>T (p.Ser1795=) c.5541C>T (p.Ser1847=) c.5748C>T (p.Ser1916=) c.5049C>T (p.Ser1683=) c.5796C>T (p.Ser1932=) | dbSNP |
16 | g.3729245G>C | CA493393985 | CREBBP | c.5802C>G (p.Ser1934=) c.5688C>G (p.Ser1896=) c.5757C>G (p.Ser1919=) c.5385C>G (p.Ser1795=) c.5541C>G (p.Ser1847=) c.5748C>G (p.Ser1916=) c.5049C>G (p.Ser1683=) c.5796C>G (p.Ser1932=) | |
16 | g.3729245G>T | CA493393986 | CREBBP | c.5802C>A (p.Ser1934=) c.5688C>A (p.Ser1896=) c.5757C>A (p.Ser1919=) c.5385C>A (p.Ser1795=) c.5541C>A (p.Ser1847=) c.5748C>A (p.Ser1916=) c.5049C>A (p.Ser1683=) c.5796C>A (p.Ser1932=) | |
16 | g.3729246del | CA2731851114 | CREBBP | c.5802del (p.Thr1935GlnfsTer?) c.5688del (p.Thr1897GlnfsTer?) c.5757del (p.Thr1920GlnfsTer?) c.5385del (p.Thr1796GlnfsTer?) c.5541del (p.Thr1848GlnfsTer?) c.5748del (p.Thr1917GlnfsTer?) c.5049del (p.Thr1684GlnfsTer?) c.5796del (p.Thr1933GlnfsTer?) | dbSNP |
16 | g.3729246G>A | CA394555451 | CREBBP | c.5801C>T (p.Ser1934Phe) c.5687C>T (p.Ser1896Phe) c.5756C>T (p.Ser1919Phe) c.5384C>T (p.Ser1795Phe) c.5540C>T (p.Ser1847Phe) c.5747C>T (p.Ser1916Phe) c.5048C>T (p.Ser1683Phe) c.5795C>T (p.Ser1932Phe) | dbSNP |
16 | g.3729246G>C | CA394555452 | CREBBP | c.5801C>G (p.Ser1934Cys) c.5687C>G (p.Ser1896Cys) c.5756C>G (p.Ser1919Cys) c.5384C>G (p.Ser1795Cys) c.5540C>G (p.Ser1847Cys) c.5747C>G (p.Ser1916Cys) c.5048C>G (p.Ser1683Cys) c.5795C>G (p.Ser1932Cys) | dbSNP |
16 | g.3729246G>T | CA394555453 | CREBBP | c.5801C>A (p.Ser1934Tyr) c.5687C>A (p.Ser1896Tyr) c.5756C>A (p.Ser1919Tyr) c.5384C>A (p.Ser1795Tyr) c.5540C>A (p.Ser1847Tyr) c.5747C>A (p.Ser1916Tyr) c.5048C>A (p.Ser1683Tyr) c.5795C>A (p.Ser1932Tyr) | dbSNP gnomAD v4 |
16 | g.3729247A= | CA2202916311 | CREBBP | c.5800T= (p.Ser1934=) c.5686T= (p.Ser1896=) c.5755T= (p.Ser1919=) c.5383T= (p.Ser1795=) c.5539T= (p.Ser1847=) c.5746T= (p.Ser1916=) c.5047T= (p.Ser1683=) c.5794T= (p.Ser1932=) | |
16 | g.3729247A>C | CA394555454 | CREBBP | c.5800T>G (p.Ser1934Ala) c.5686T>G (p.Ser1896Ala) c.5755T>G (p.Ser1919Ala) c.5383T>G (p.Ser1795Ala) c.5539T>G (p.Ser1847Ala) c.5746T>G (p.Ser1916Ala) c.5047T>G (p.Ser1683Ala) c.5794T>G (p.Ser1932Ala) | dbSNP |
16 | g.3729247A>G | CA243769 | CREBBP | c.5800T>C (p.Ser1934Pro) c.5686T>C (p.Ser1896Pro) c.5755T>C (p.Ser1919Pro) c.5383T>C (p.Ser1795Pro) c.5539T>C (p.Ser1847Pro) c.5746T>C (p.Ser1916Pro) c.5047T>C (p.Ser1683Pro) c.5794T>C (p.Ser1932Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729247A>T | CA394555456 | CREBBP | c.5800T>A (p.Ser1934Thr) c.5686T>A (p.Ser1896Thr) c.5755T>A (p.Ser1919Thr) c.5383T>A (p.Ser1795Thr) c.5539T>A (p.Ser1847Thr) c.5746T>A (p.Ser1916Thr) c.5047T>A (p.Ser1683Thr) c.5794T>A (p.Ser1932Thr) | dbSNP |
16 | g.3729247_3729248insG | CA645575159 | CREBBP | c.5799_5800insC (p.Ser1934LeufsTer?) c.5685_5686insC (p.Ser1896LeufsTer?) c.5754_5755insC (p.Ser1919LeufsTer?) c.5382_5383insC (p.Ser1795LeufsTer?) c.5538_5539insC (p.Ser1847LeufsTer?) c.5745_5746insC (p.Ser1916LeufsTer?) c.5046_5047insC (p.Ser1683LeufsTer?) c.5793_5794insC (p.Ser1932LeufsTer?) | COSMIC |
16 | g.3729248C>A | CA493393987 | CREBBP | c.5799G>T (p.Val1933=) c.5685G>T (p.Val1895=) c.5754G>T (p.Val1918=) c.5382G>T (p.Val1794=) c.5538G>T (p.Val1846=) c.5745G>T (p.Val1915=) c.5046G>T (p.Val1682=) c.5793G>T (p.Val1931=) | |
16 | g.3729248C>G | CA493393988 | CREBBP | c.5799G>C (p.Val1933=) c.5685G>C (p.Val1895=) c.5754G>C (p.Val1918=) c.5382G>C (p.Val1794=) c.5538G>C (p.Val1846=) c.5745G>C (p.Val1915=) c.5046G>C (p.Val1682=) c.5793G>C (p.Val1931=) | dbSNP |
16 | g.3729248C>T | CA493393989 | CREBBP | c.5799G>A (p.Val1933=) c.5685G>A (p.Val1895=) c.5754G>A (p.Val1918=) c.5382G>A (p.Val1794=) c.5538G>A (p.Val1846=) c.5745G>A (p.Val1915=) c.5046G>A (p.Val1682=) c.5793G>A (p.Val1931=) | dbSNP gnomAD v4 |
16 | g.3729249A>C | CA394555458 | CREBBP | c.5798T>G (p.Val1933Gly) c.5684T>G (p.Val1895Gly) c.5753T>G (p.Val1918Gly) c.5381T>G (p.Val1794Gly) c.5537T>G (p.Val1846Gly) c.5744T>G (p.Val1915Gly) c.5045T>G (p.Val1682Gly) c.5792T>G (p.Val1931Gly) | dbSNP |
16 | g.3729249A>G | CA394555460 | CREBBP | c.5798T>C (p.Val1933Ala) c.5684T>C (p.Val1895Ala) c.5753T>C (p.Val1918Ala) c.5381T>C (p.Val1794Ala) c.5537T>C (p.Val1846Ala) c.5744T>C (p.Val1915Ala) c.5045T>C (p.Val1682Ala) c.5792T>C (p.Val1931Ala) | dbSNP gnomAD v4 |
16 | g.3729249A>T | CA394555462 | CREBBP | c.5798T>A (p.Val1933Glu) c.5684T>A (p.Val1895Glu) c.5753T>A (p.Val1918Glu) c.5381T>A (p.Val1794Glu) c.5537T>A (p.Val1846Glu) c.5744T>A (p.Val1915Glu) c.5045T>A (p.Val1682Glu) c.5792T>A (p.Val1931Glu) | dbSNP |
16 | g.3729250C>A | CA394555466 | CREBBP | c.5797G>T (p.Val1933Leu) c.5683G>T (p.Val1895Leu) c.5752G>T (p.Val1918Leu) c.5380G>T (p.Val1794Leu) c.5536G>T (p.Val1846Leu) c.5743G>T (p.Val1915Leu) c.5044G>T (p.Val1682Leu) c.5791G>T (p.Val1931Leu) | |
16 | g.3729250C= | CA2202916312 | CREBBP | c.5797G= (p.Val1933=) c.5683G= (p.Val1895=) c.5752G= (p.Val1918=) c.5380G= (p.Val1794=) c.5536G= (p.Val1846=) c.5743G= (p.Val1915=) c.5044G= (p.Val1682=) c.5791G= (p.Val1931=) | |
16 | g.3729250C>G | CA276972022 | CREBBP | c.5797G>C (p.Val1933Leu) c.5683G>C (p.Val1895Leu) c.5752G>C (p.Val1918Leu) c.5380G>C (p.Val1794Leu) c.5536G>C (p.Val1846Leu) c.5743G>C (p.Val1915Leu) c.5044G>C (p.Val1682Leu) c.5791G>C (p.Val1931Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729250C>T | CA394555464 | CREBBP | c.5797G>A (p.Val1933Met) c.5683G>A (p.Val1895Met) c.5752G>A (p.Val1918Met) c.5380G>A (p.Val1794Met) c.5536G>A (p.Val1846Met) c.5743G>A (p.Val1915Met) c.5044G>A (p.Val1682Met) c.5791G>A (p.Val1931Met) | dbSNP gnomAD v4 |
16 | g.3729251C>A | CA493393991 | CREBBP | c.5796G>T (p.Thr1932=) c.5682G>T (p.Thr1894=) c.5751G>T (p.Thr1917=) c.5379G>T (p.Thr1793=) c.5535G>T (p.Thr1845=) c.5742G>T (p.Thr1914=) c.5043G>T (p.Thr1681=) c.5790G>T (p.Thr1930=) | dbSNP gnomAD v4 COSMIC |
16 | g.3729251C= | CA2202916313 | CREBBP | c.5796G= (p.Thr1932=) c.5682G= (p.Thr1894=) c.5751G= (p.Thr1917=) c.5379G= (p.Thr1793=) c.5535G= (p.Thr1845=) c.5742G= (p.Thr1914=) c.5043G= (p.Thr1681=) c.5790G= (p.Thr1930=) | |
16 | g.3729251C>G | CA7869244 | CREBBP | c.5796G>C (p.Thr1932=) c.5682G>C (p.Thr1894=) c.5751G>C (p.Thr1917=) c.5379G>C (p.Thr1793=) c.5535G>C (p.Thr1845=) c.5742G>C (p.Thr1914=) c.5043G>C (p.Thr1681=) c.5790G>C (p.Thr1930=) | dbSNP ExAC gnomAD v4 |
16 | g.3729251C>T | CA7869243 | CREBBP | c.5796G>A (p.Thr1932=) c.5682G>A (p.Thr1894=) c.5751G>A (p.Thr1917=) c.5379G>A (p.Thr1793=) c.5535G>A (p.Thr1845=) c.5742G>A (p.Thr1914=) c.5043G>A (p.Thr1681=) c.5790G>A (p.Thr1930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729252G>A | CA276972029 | CREBBP | c.5795C>T (p.Thr1932Met) c.5681C>T (p.Thr1894Met) c.5750C>T (p.Thr1917Met) c.5378C>T (p.Thr1793Met) c.5534C>T (p.Thr1845Met) c.5741C>T (p.Thr1914Met) c.5042C>T (p.Thr1681Met) c.5789C>T (p.Thr1930Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729252G>C | CA394555473 | CREBBP | c.5795C>G (p.Thr1932Arg) c.5681C>G (p.Thr1894Arg) c.5750C>G (p.Thr1917Arg) c.5378C>G (p.Thr1793Arg) c.5534C>G (p.Thr1845Arg) c.5741C>G (p.Thr1914Arg) c.5042C>G (p.Thr1681Arg) c.5789C>G (p.Thr1930Arg) | dbSNP |
16 | g.3729252G= | CA2202916314 | CREBBP | c.5795C= (p.Thr1932=) c.5681C= (p.Thr1894=) c.5750C= (p.Thr1917=) c.5378C= (p.Thr1793=) c.5534C= (p.Thr1845=) c.5741C= (p.Thr1914=) c.5042C= (p.Thr1681=) c.5789C= (p.Thr1930=) | |
16 | g.3729252G>T | CA394555475 | CREBBP | c.5795C>A (p.Thr1932Lys) c.5681C>A (p.Thr1894Lys) c.5750C>A (p.Thr1917Lys) c.5378C>A (p.Thr1793Lys) c.5534C>A (p.Thr1845Lys) c.5741C>A (p.Thr1914Lys) c.5042C>A (p.Thr1681Lys) c.5789C>A (p.Thr1930Lys) | gnomAD v4 |
16 | g.3729253T>A | CA394555478 | CREBBP | c.5794A>T (p.Thr1932Ser) c.5680A>T (p.Thr1894Ser) c.5749A>T (p.Thr1917Ser) c.5377A>T (p.Thr1793Ser) c.5533A>T (p.Thr1845Ser) c.5740A>T (p.Thr1914Ser) c.5041A>T (p.Thr1681Ser) c.5788A>T (p.Thr1930Ser) | dbSNP |
16 | g.3729253T>C | CA7869245 | CREBBP | c.5794A>G (p.Thr1932Ala) c.5680A>G (p.Thr1894Ala) c.5749A>G (p.Thr1917Ala) c.5377A>G (p.Thr1793Ala) c.5533A>G (p.Thr1845Ala) c.5740A>G (p.Thr1914Ala) c.5041A>G (p.Thr1681Ala) c.5788A>G (p.Thr1930Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729253T>G | CA394555480 | CREBBP | c.5794A>C (p.Thr1932Pro) c.5680A>C (p.Thr1894Pro) c.5749A>C (p.Thr1917Pro) c.5377A>C (p.Thr1793Pro) c.5533A>C (p.Thr1845Pro) c.5740A>C (p.Thr1914Pro) c.5041A>C (p.Thr1681Pro) c.5788A>C (p.Thr1930Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729253T= | CA2202916315 | CREBBP | c.5794A= (p.Thr1932=) c.5680A= (p.Thr1894=) c.5749A= (p.Thr1917=) c.5377A= (p.Thr1793=) c.5533A= (p.Thr1845=) c.5740A= (p.Thr1914=) c.5041A= (p.Thr1681=) c.5788A= (p.Thr1930=) | |
16 | g.3729254G>A | CA493393993 | CREBBP | c.5793C>T (p.Thr1931=) c.5679C>T (p.Thr1893=) c.5748C>T (p.Thr1916=) c.5376C>T (p.Thr1792=) c.5532C>T (p.Thr1844=) c.5739C>T (p.Thr1913=) c.5040C>T (p.Thr1680=) c.5787C>T (p.Thr1929=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729254G>C | CA493393994 | CREBBP | c.5793C>G (p.Thr1931=) c.5679C>G (p.Thr1893=) c.5748C>G (p.Thr1916=) c.5376C>G (p.Thr1792=) c.5532C>G (p.Thr1844=) c.5739C>G (p.Thr1913=) c.5040C>G (p.Thr1680=) c.5787C>G (p.Thr1929=) | dbSNP gnomAD v4 |
16 | g.3729254G= | CA2202916316 | CREBBP | c.5793C= (p.Thr1931=) c.5679C= (p.Thr1893=) c.5748C= (p.Thr1916=) c.5376C= (p.Thr1792=) c.5532C= (p.Thr1844=) c.5739C= (p.Thr1913=) c.5040C= (p.Thr1680=) c.5787C= (p.Thr1929=) | |
16 | g.3729254G>T | CA493393995 | CREBBP | c.5793C>A (p.Thr1931=) c.5679C>A (p.Thr1893=) c.5748C>A (p.Thr1916=) c.5376C>A (p.Thr1792=) c.5532C>A (p.Thr1844=) c.5739C>A (p.Thr1913=) c.5040C>A (p.Thr1680=) c.5787C>A (p.Thr1929=) | gnomAD v4 |
16 | g.3729255dup | CA2695222626 | CREBBP | c.5793dup (p.Thr1932HisfsTer?) c.5679dup (p.Thr1894HisfsTer?) c.5748dup (p.Thr1917HisfsTer?) c.5376dup (p.Thr1793HisfsTer?) c.5532dup (p.Thr1845HisfsTer?) c.5739dup (p.Thr1914HisfsTer?) c.5040dup (p.Thr1681HisfsTer?) c.5787dup (p.Thr1930HisfsTer?) | |
16 | g.3729255G>A | CA394555483 | CREBBP | c.5792C>T (p.Thr1931Ile) c.5678C>T (p.Thr1893Ile) c.5747C>T (p.Thr1916Ile) c.5375C>T (p.Thr1792Ile) c.5531C>T (p.Thr1844Ile) c.5738C>T (p.Thr1913Ile) c.5039C>T (p.Thr1680Ile) c.5786C>T (p.Thr1929Ile) | dbSNP gnomAD v4 |
16 | g.3729255G>C | CA394555485 | CREBBP | c.5792C>G (p.Thr1931Ser) c.5678C>G (p.Thr1893Ser) c.5747C>G (p.Thr1916Ser) c.5375C>G (p.Thr1792Ser) c.5531C>G (p.Thr1844Ser) c.5738C>G (p.Thr1913Ser) c.5039C>G (p.Thr1680Ser) c.5786C>G (p.Thr1929Ser) | dbSNP |
16 | g.3729255G>T | CA394555486 | CREBBP | c.5792C>A (p.Thr1931Asn) c.5678C>A (p.Thr1893Asn) c.5747C>A (p.Thr1916Asn) c.5375C>A (p.Thr1792Asn) c.5531C>A (p.Thr1844Asn) c.5738C>A (p.Thr1913Asn) c.5039C>A (p.Thr1680Asn) c.5786C>A (p.Thr1929Asn) | gnomAD v4 |
16 | g.3729256T>A | CA394555491 | CREBBP | c.5791A>T (p.Thr1931Ser) c.5677A>T (p.Thr1893Ser) c.5746A>T (p.Thr1916Ser) c.5374A>T (p.Thr1792Ser) c.5530A>T (p.Thr1844Ser) c.5737A>T (p.Thr1913Ser) c.5038A>T (p.Thr1680Ser) c.5785A>T (p.Thr1929Ser) | |
16 | g.3729256T>C | CA394555492 | CREBBP | c.5791A>G (p.Thr1931Ala) c.5677A>G (p.Thr1893Ala) c.5746A>G (p.Thr1916Ala) c.5374A>G (p.Thr1792Ala) c.5530A>G (p.Thr1844Ala) c.5737A>G (p.Thr1913Ala) c.5038A>G (p.Thr1680Ala) c.5785A>G (p.Thr1929Ala) | |
16 | g.3729256T>G | CA394555489 | CREBBP | c.5791A>C (p.Thr1931Pro) c.5677A>C (p.Thr1893Pro) c.5746A>C (p.Thr1916Pro) c.5374A>C (p.Thr1792Pro) c.5530A>C (p.Thr1844Pro) c.5737A>C (p.Thr1913Pro) c.5038A>C (p.Thr1680Pro) c.5785A>C (p.Thr1929Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729256T= | CA2202916317 | CREBBP | c.5791A= (p.Thr1931=) c.5677A= (p.Thr1893=) c.5746A= (p.Thr1916=) c.5374A= (p.Thr1792=) c.5530A= (p.Thr1844=) c.5737A= (p.Thr1913=) c.5038A= (p.Thr1680=) c.5785A= (p.Thr1929=) | |
16 | g.3729257G>A | CA7869246 | CREBBP | c.5790C>T (p.Pro1930=) c.5676C>T (p.Pro1892=) c.5745C>T (p.Pro1915=) c.5373C>T (p.Pro1791=) c.5529C>T (p.Pro1843=) c.5736C>T (p.Pro1912=) c.5037C>T (p.Pro1679=) c.5784C>T (p.Pro1928=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729257G>C | CA493394001 | CREBBP | c.5790C>G (p.Pro1930=) c.5676C>G (p.Pro1892=) c.5745C>G (p.Pro1915=) c.5373C>G (p.Pro1791=) c.5529C>G (p.Pro1843=) c.5736C>G (p.Pro1912=) c.5037C>G (p.Pro1679=) c.5784C>G (p.Pro1928=) | ClinVar gnomAD v4 |
16 | g.3729257G= | CA2202916318 | CREBBP | c.5790C= (p.Pro1930=) c.5676C= (p.Pro1892=) c.5745C= (p.Pro1915=) c.5373C= (p.Pro1791=) c.5529C= (p.Pro1843=) c.5736C= (p.Pro1912=) c.5037C= (p.Pro1679=) c.5784C= (p.Pro1928=) | |
16 | g.3729257G>T | CA493394000 | CREBBP | c.5790C>A (p.Pro1930=) c.5676C>A (p.Pro1892=) c.5745C>A (p.Pro1915=) c.5373C>A (p.Pro1791=) c.5529C>A (p.Pro1843=) c.5736C>A (p.Pro1912=) c.5037C>A (p.Pro1679=) c.5784C>A (p.Pro1928=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729262dup | CA915949067 | CREBBP | c.5790dup (p.Thr1931HisfsTer?) c.5676dup (p.Thr1893HisfsTer?) c.5745dup (p.Thr1916HisfsTer?) c.5373dup (p.Thr1792HisfsTer?) c.5529dup (p.Thr1844HisfsTer?) c.5736dup (p.Thr1913HisfsTer?) c.5037dup (p.Thr1680HisfsTer?) c.5784dup (p.Thr1929HisfsTer?) | ClinVar dbSNP gnomAD v4 |
16 | g.3729262del | CA645575160 | CREBBP | c.5790del (p.Thr1931ProfsTer?) c.5676del (p.Thr1893ProfsTer?) c.5745del (p.Thr1916ProfsTer?) c.5373del (p.Thr1792ProfsTer?) c.5529del (p.Thr1844ProfsTer?) c.5736del (p.Thr1913ProfsTer?) c.5037del (p.Thr1680ProfsTer?) c.5784del (p.Thr1929ProfsTer?) | gnomAD v4 COSMIC |
16 | g.3729258G>A | CA394555496 | CREBBP | c.5789C>T (p.Pro1930Leu) c.5675C>T (p.Pro1892Leu) c.5744C>T (p.Pro1915Leu) c.5372C>T (p.Pro1791Leu) c.5528C>T (p.Pro1843Leu) c.5735C>T (p.Pro1912Leu) c.5036C>T (p.Pro1679Leu) c.5783C>T (p.Pro1928Leu) | dbSNP |
16 | g.3729258G>C | CA394555497 | CREBBP | c.5789C>G (p.Pro1930Arg) c.5675C>G (p.Pro1892Arg) c.5744C>G (p.Pro1915Arg) c.5372C>G (p.Pro1791Arg) c.5528C>G (p.Pro1843Arg) c.5735C>G (p.Pro1912Arg) c.5036C>G (p.Pro1679Arg) c.5783C>G (p.Pro1928Arg) | dbSNP |
16 | g.3729258G>T | CA394555499 | CREBBP | c.5789C>A (p.Pro1930His) c.5675C>A (p.Pro1892His) c.5744C>A (p.Pro1915His) c.5372C>A (p.Pro1791His) c.5528C>A (p.Pro1843His) c.5735C>A (p.Pro1912His) c.5036C>A (p.Pro1679His) c.5783C>A (p.Pro1928His) | dbSNP gnomAD v4 |
16 | g.3729259G>A | CA394555502 | CREBBP | c.5788C>T (p.Pro1930Ser) c.5674C>T (p.Pro1892Ser) c.5743C>T (p.Pro1915Ser) c.5371C>T (p.Pro1791Ser) c.5527C>T (p.Pro1843Ser) c.5734C>T (p.Pro1912Ser) c.5035C>T (p.Pro1679Ser) c.5782C>T (p.Pro1928Ser) | dbSNP gnomAD v4 |
16 | g.3729259G>C | CA394555505 | CREBBP | c.5788C>G (p.Pro1930Ala) c.5674C>G (p.Pro1892Ala) c.5743C>G (p.Pro1915Ala) c.5371C>G (p.Pro1791Ala) c.5527C>G (p.Pro1843Ala) c.5734C>G (p.Pro1912Ala) c.5035C>G (p.Pro1679Ala) c.5782C>G (p.Pro1928Ala) | ClinVar dbSNP |
16 | g.3729259G= | CA2202916319 | CREBBP | c.5788C= (p.Pro1930=) c.5674C= (p.Pro1892=) c.5743C= (p.Pro1915=) c.5371C= (p.Pro1791=) c.5527C= (p.Pro1843=) c.5734C= (p.Pro1912=) c.5035C= (p.Pro1679=) c.5782C= (p.Pro1928=) | |
16 | g.3729259G>T | CA394555507 | CREBBP | c.5788C>A (p.Pro1930Thr) c.5674C>A (p.Pro1892Thr) c.5743C>A (p.Pro1915Thr) c.5371C>A (p.Pro1791Thr) c.5527C>A (p.Pro1843Thr) c.5734C>A (p.Pro1912Thr) c.5035C>A (p.Pro1679Thr) c.5782C>A (p.Pro1928Thr) | dbSNP gnomAD v4 |
16 | g.3729260G>A | CA493394002 | CREBBP | c.5787C>T (p.Pro1929=) c.5673C>T (p.Pro1891=) c.5742C>T (p.Pro1914=) c.5370C>T (p.Pro1790=) c.5526C>T (p.Pro1842=) c.5733C>T (p.Pro1911=) c.5034C>T (p.Pro1678=) c.5781C>T (p.Pro1927=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729260G>C | CA493394003 | CREBBP | c.5787C>G (p.Pro1929=) c.5673C>G (p.Pro1891=) c.5742C>G (p.Pro1914=) c.5370C>G (p.Pro1790=) c.5526C>G (p.Pro1842=) c.5733C>G (p.Pro1911=) c.5034C>G (p.Pro1678=) c.5781C>G (p.Pro1927=) | |
16 | g.3729260G= | CA2202916320 | CREBBP | c.5787C= (p.Pro1929=) c.5673C= (p.Pro1891=) c.5742C= (p.Pro1914=) c.5370C= (p.Pro1790=) c.5526C= (p.Pro1842=) c.5733C= (p.Pro1911=) c.5034C= (p.Pro1678=) c.5781C= (p.Pro1927=) | |
16 | g.3729260G>T | CA493394004 | CREBBP | c.5787C>A (p.Pro1929=) c.5673C>A (p.Pro1891=) c.5742C>A (p.Pro1914=) c.5370C>A (p.Pro1790=) c.5526C>A (p.Pro1842=) c.5733C>A (p.Pro1911=) c.5034C>A (p.Pro1678=) c.5781C>A (p.Pro1927=) | dbSNP gnomAD v4 |
16 | g.3729261G>A | CA394555509 | CREBBP | c.5786C>T (p.Pro1929Leu) c.5672C>T (p.Pro1891Leu) c.5741C>T (p.Pro1914Leu) c.5369C>T (p.Pro1790Leu) c.5525C>T (p.Pro1842Leu) c.5732C>T (p.Pro1911Leu) c.5033C>T (p.Pro1678Leu) c.5780C>T (p.Pro1927Leu) | dbSNP gnomAD v4 |
16 | g.3729261G>C | CA394555511 | CREBBP | c.5786C>G (p.Pro1929Arg) c.5672C>G (p.Pro1891Arg) c.5741C>G (p.Pro1914Arg) c.5369C>G (p.Pro1790Arg) c.5525C>G (p.Pro1842Arg) c.5732C>G (p.Pro1911Arg) c.5033C>G (p.Pro1678Arg) c.5780C>G (p.Pro1927Arg) | dbSNP |
16 | g.3729261G>T | CA394555513 | CREBBP | c.5786C>A (p.Pro1929His) c.5672C>A (p.Pro1891His) c.5741C>A (p.Pro1914His) c.5369C>A (p.Pro1790His) c.5525C>A (p.Pro1842His) c.5732C>A (p.Pro1911His) c.5033C>A (p.Pro1678His) c.5780C>A (p.Pro1927His) | ClinVar dbSNP |
16 | g.3729262G>A | CA394555516 | CREBBP | c.5785C>T (p.Pro1929Ser) c.5671C>T (p.Pro1891Ser) c.5740C>T (p.Pro1914Ser) c.5368C>T (p.Pro1790Ser) c.5524C>T (p.Pro1842Ser) c.5731C>T (p.Pro1911Ser) c.5032C>T (p.Pro1678Ser) c.5779C>T (p.Pro1927Ser) | gnomAD v4 |
16 | g.3729262G>C | CA394555517 | CREBBP | c.5785C>G (p.Pro1929Ala) c.5671C>G (p.Pro1891Ala) c.5740C>G (p.Pro1914Ala) c.5368C>G (p.Pro1790Ala) c.5524C>G (p.Pro1842Ala) c.5731C>G (p.Pro1911Ala) c.5032C>G (p.Pro1678Ala) c.5779C>G (p.Pro1927Ala) | ClinVar dbSNP |
16 | g.3729262G= | CA2202916321 | CREBBP | c.5785C= (p.Pro1929=) c.5671C= (p.Pro1891=) c.5740C= (p.Pro1914=) c.5368C= (p.Pro1790=) c.5524C= (p.Pro1842=) c.5731C= (p.Pro1911=) c.5032C= (p.Pro1678=) c.5779C= (p.Pro1927=) | |
16 | g.3729262G>T | CA394555519 | CREBBP | c.5785C>A (p.Pro1929Thr) c.5671C>A (p.Pro1891Thr) c.5740C>A (p.Pro1914Thr) c.5368C>A (p.Pro1790Thr) c.5524C>A (p.Pro1842Thr) c.5731C>A (p.Pro1911Thr) c.5032C>A (p.Pro1678Thr) c.5779C>A (p.Pro1927Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729263C>A | CA394555521 | CREBBP | c.5784G>T (p.Gln1928His) c.5670G>T (p.Gln1890His) c.5739G>T (p.Gln1913His) c.5367G>T (p.Gln1789His) c.5523G>T (p.Gln1841His) c.5730G>T (p.Gln1910His) c.5031G>T (p.Gln1677His) c.5778G>T (p.Gln1926His) | dbSNP gnomAD v4 |
16 | g.3729263C>G | CA394555523 | CREBBP | c.5784G>C (p.Gln1928His) c.5670G>C (p.Gln1890His) c.5739G>C (p.Gln1913His) c.5367G>C (p.Gln1789His) c.5523G>C (p.Gln1841His) c.5730G>C (p.Gln1910His) c.5031G>C (p.Gln1677His) c.5778G>C (p.Gln1926His) | dbSNP |
16 | g.3729263C>T | CA493394006 | CREBBP | c.5784G>A (p.Gln1928=) c.5670G>A (p.Gln1890=) c.5739G>A (p.Gln1913=) c.5367G>A (p.Gln1789=) c.5523G>A (p.Gln1841=) c.5730G>A (p.Gln1910=) c.5031G>A (p.Gln1677=) c.5778G>A (p.Gln1926=) | dbSNP gnomAD v4 |
16 | g.3729264T>A | CA394555524 | CREBBP | c.5783A>T (p.Gln1928Leu) c.5669A>T (p.Gln1890Leu) c.5738A>T (p.Gln1913Leu) c.5366A>T (p.Gln1789Leu) c.5522A>T (p.Gln1841Leu) c.5729A>T (p.Gln1910Leu) c.5030A>T (p.Gln1677Leu) c.5777A>T (p.Gln1926Leu) | dbSNP |
16 | g.3729264T>C | CA394555525 | CREBBP | c.5783A>G (p.Gln1928Arg) c.5669A>G (p.Gln1890Arg) c.5738A>G (p.Gln1913Arg) c.5366A>G (p.Gln1789Arg) c.5522A>G (p.Gln1841Arg) c.5729A>G (p.Gln1910Arg) c.5030A>G (p.Gln1677Arg) c.5777A>G (p.Gln1926Arg) | dbSNP |
16 | g.3729264T>G | CA394555527 | CREBBP | c.5783A>C (p.Gln1928Pro) c.5669A>C (p.Gln1890Pro) c.5738A>C (p.Gln1913Pro) c.5366A>C (p.Gln1789Pro) c.5522A>C (p.Gln1841Pro) c.5729A>C (p.Gln1910Pro) c.5030A>C (p.Gln1677Pro) c.5777A>C (p.Gln1926Pro) | dbSNP |
16 | g.3729265G>A | CA394555530 | CREBBP | c.5782C>T (p.Gln1928Ter) c.5668C>T (p.Gln1890Ter) c.5737C>T (p.Gln1913Ter) c.5365C>T (p.Gln1789Ter) c.5521C>T (p.Gln1841Ter) c.5728C>T (p.Gln1910Ter) c.5029C>T (p.Gln1677Ter) c.5776C>T (p.Gln1926Ter) | ClinVar dbSNP |
16 | g.3729265G>C | CA394555531 | CREBBP | c.5782C>G (p.Gln1928Glu) c.5668C>G (p.Gln1890Glu) c.5737C>G (p.Gln1913Glu) c.5365C>G (p.Gln1789Glu) c.5521C>G (p.Gln1841Glu) c.5728C>G (p.Gln1910Glu) c.5029C>G (p.Gln1677Glu) c.5776C>G (p.Gln1926Glu) | dbSNP |
16 | g.3729265G>T | CA394555533 | CREBBP | c.5782C>A (p.Gln1928Lys) c.5668C>A (p.Gln1890Lys) c.5737C>A (p.Gln1913Lys) c.5365C>A (p.Gln1789Lys) c.5521C>A (p.Gln1841Lys) c.5728C>A (p.Gln1910Lys) c.5029C>A (p.Gln1677Lys) c.5776C>A (p.Gln1926Lys) | dbSNP gnomAD v4 |
16 | g.3729266A>C | CA493394010 | CREBBP | c.5781T>G (p.Thr1927=) c.5667T>G (p.Thr1889=) c.5736T>G (p.Thr1912=) c.5364T>G (p.Thr1788=) c.5520T>G (p.Thr1840=) c.5727T>G (p.Thr1909=) c.5028T>G (p.Thr1676=) c.5775T>G (p.Thr1925=) | gnomAD v4 |
16 | g.3729266A>G | CA493394011 | CREBBP | c.5781T>C (p.Thr1927=) c.5667T>C (p.Thr1889=) c.5736T>C (p.Thr1912=) c.5364T>C (p.Thr1788=) c.5520T>C (p.Thr1840=) c.5727T>C (p.Thr1909=) c.5028T>C (p.Thr1676=) c.5775T>C (p.Thr1925=) | dbSNP gnomAD v4 |
16 | g.3729266A>T | CA493394012 | CREBBP | c.5781T>A (p.Thr1927=) c.5667T>A (p.Thr1889=) c.5736T>A (p.Thr1912=) c.5364T>A (p.Thr1788=) c.5520T>A (p.Thr1840=) c.5727T>A (p.Thr1909=) c.5028T>A (p.Thr1676=) c.5775T>A (p.Thr1925=) | dbSNP |
16 | g.3729267G>A | CA394555536 | CREBBP | c.5780C>T (p.Thr1927Ile) c.5666C>T (p.Thr1889Ile) c.5735C>T (p.Thr1912Ile) c.5363C>T (p.Thr1788Ile) c.5519C>T (p.Thr1840Ile) c.5726C>T (p.Thr1909Ile) c.5027C>T (p.Thr1676Ile) c.5774C>T (p.Thr1925Ile) | dbSNP |
16 | g.3729267G>C | CA394555537 | CREBBP | c.5780C>G (p.Thr1927Ser) c.5666C>G (p.Thr1889Ser) c.5735C>G (p.Thr1912Ser) c.5363C>G (p.Thr1788Ser) c.5519C>G (p.Thr1840Ser) c.5726C>G (p.Thr1909Ser) c.5027C>G (p.Thr1676Ser) c.5774C>G (p.Thr1925Ser) | dbSNP |
16 | g.3729267G>T | CA394555539 | CREBBP | c.5780C>A (p.Thr1927Asn) c.5666C>A (p.Thr1889Asn) c.5735C>A (p.Thr1912Asn) c.5363C>A (p.Thr1788Asn) c.5519C>A (p.Thr1840Asn) c.5726C>A (p.Thr1909Asn) c.5027C>A (p.Thr1676Asn) c.5774C>A (p.Thr1925Asn) | gnomAD v4 |
16 | g.3729268T>A | CA394555541 | CREBBP | c.5779A>T (p.Thr1927Ser) c.5665A>T (p.Thr1889Ser) c.5734A>T (p.Thr1912Ser) c.5362A>T (p.Thr1788Ser) c.5518A>T (p.Thr1840Ser) c.5725A>T (p.Thr1909Ser) c.5026A>T (p.Thr1676Ser) c.5773A>T (p.Thr1925Ser) | dbSNP |
16 | g.3729268T>C | CA394555543 | CREBBP | c.5779A>G (p.Thr1927Ala) c.5665A>G (p.Thr1889Ala) c.5734A>G (p.Thr1912Ala) c.5362A>G (p.Thr1788Ala) c.5518A>G (p.Thr1840Ala) c.5725A>G (p.Thr1909Ala) c.5026A>G (p.Thr1676Ala) c.5773A>G (p.Thr1925Ala) | dbSNP |
16 | g.3729268T>G | CA394555545 | CREBBP | c.5779A>C (p.Thr1927Pro) c.5665A>C (p.Thr1889Pro) c.5734A>C (p.Thr1912Pro) c.5362A>C (p.Thr1788Pro) c.5518A>C (p.Thr1840Pro) c.5725A>C (p.Thr1909Pro) c.5026A>C (p.Thr1676Pro) c.5773A>C (p.Thr1925Pro) | dbSNP |
16 | g.3729269C>A | CA493394013 | CREBBP | c.5778G>T (p.Arg1926=) c.5664G>T (p.Arg1888=) c.5733G>T (p.Arg1911=) c.5361G>T (p.Arg1787=) c.5517G>T (p.Arg1839=) c.5724G>T (p.Arg1908=) c.5025G>T (p.Arg1675=) c.5772G>T (p.Arg1924=) | dbSNP |
16 | g.3729269C>G | CA493394014 | CREBBP | c.5778G>C (p.Arg1926=) c.5664G>C (p.Arg1888=) c.5733G>C (p.Arg1911=) c.5361G>C (p.Arg1787=) c.5517G>C (p.Arg1839=) c.5724G>C (p.Arg1908=) c.5025G>C (p.Arg1675=) c.5772G>C (p.Arg1924=) | dbSNP |
16 | g.3729269C>T | CA493394015 | CREBBP | c.5778G>A (p.Arg1926=) c.5664G>A (p.Arg1888=) c.5733G>A (p.Arg1911=) c.5361G>A (p.Arg1787=) c.5517G>A (p.Arg1839=) c.5724G>A (p.Arg1908=) c.5025G>A (p.Arg1675=) c.5772G>A (p.Arg1924=) | dbSNP |
16 | g.3729270C>A | CA394555554 | CREBBP | c.5777G>T (p.Arg1926Leu) c.5663G>T (p.Arg1888Leu) c.5732G>T (p.Arg1911Leu) c.5360G>T (p.Arg1787Leu) c.5516G>T (p.Arg1839Leu) c.5723G>T (p.Arg1908Leu) c.5024G>T (p.Arg1675Leu) c.5771G>T (p.Arg1924Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729270C= | CA2202916322 | CREBBP | c.5777G= (p.Arg1926=) c.5663G= (p.Arg1888=) c.5732G= (p.Arg1911=) c.5360G= (p.Arg1787=) c.5516G= (p.Arg1839=) c.5723G= (p.Arg1908=) c.5024G= (p.Arg1675=) c.5771G= (p.Arg1924=) | |
16 | g.3729270C>G | CA394555552 | CREBBP | c.5777G>C (p.Arg1926Pro) c.5663G>C (p.Arg1888Pro) c.5732G>C (p.Arg1911Pro) c.5360G>C (p.Arg1787Pro) c.5516G>C (p.Arg1839Pro) c.5723G>C (p.Arg1908Pro) c.5024G>C (p.Arg1675Pro) c.5771G>C (p.Arg1924Pro) | dbSNP gnomAD v4 |
16 | g.3729270C>T | CA394555548 | CREBBP | c.5777G>A (p.Arg1926Gln) c.5663G>A (p.Arg1888Gln) c.5732G>A (p.Arg1911Gln) c.5360G>A (p.Arg1787Gln) c.5516G>A (p.Arg1839Gln) c.5723G>A (p.Arg1908Gln) c.5024G>A (p.Arg1675Gln) c.5771G>A (p.Arg1924Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729271G>A | CA394555556 | CREBBP | c.5776C>T (p.Arg1926Trp) c.5662C>T (p.Arg1888Trp) c.5731C>T (p.Arg1911Trp) c.5359C>T (p.Arg1787Trp) c.5515C>T (p.Arg1839Trp) c.5722C>T (p.Arg1908Trp) c.5023C>T (p.Arg1675Trp) c.5770C>T (p.Arg1924Trp) | dbSNP gnomAD v4 |
16 | g.3729271G>C | CA7869247 | CREBBP | c.5776C>G (p.Arg1926Gly) c.5662C>G (p.Arg1888Gly) c.5731C>G (p.Arg1911Gly) c.5359C>G (p.Arg1787Gly) c.5515C>G (p.Arg1839Gly) c.5722C>G (p.Arg1908Gly) c.5023C>G (p.Arg1675Gly) c.5770C>G (p.Arg1924Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729271G= | CA2202916323 | CREBBP | c.5776C= (p.Arg1926=) c.5662C= (p.Arg1888=) c.5731C= (p.Arg1911=) c.5359C= (p.Arg1787=) c.5515C= (p.Arg1839=) c.5722C= (p.Arg1908=) c.5023C= (p.Arg1675=) c.5770C= (p.Arg1924=) | |
16 | g.3729271G>T | CA493394017 | CREBBP | c.5776C>A (p.Arg1926=) c.5662C>A (p.Arg1888=) c.5731C>A (p.Arg1911=) c.5359C>A (p.Arg1787=) c.5515C>A (p.Arg1839=) c.5722C>A (p.Arg1908=) c.5023C>A (p.Arg1675=) c.5770C>A (p.Arg1924=) | dbSNP gnomAD v4 |
16 | g.3729272G>A | CA493394018 | CREBBP | c.5775C>T (p.Ala1925=) c.5661C>T (p.Ala1887=) c.5730C>T (p.Ala1910=) c.5358C>T (p.Ala1786=) c.5514C>T (p.Ala1838=) c.5721C>T (p.Ala1907=) c.5022C>T (p.Ala1674=) c.5769C>T (p.Ala1923=) | dbSNP |
16 | g.3729272G>C | CA493394019 | CREBBP | c.5775C>G (p.Ala1925=) c.5661C>G (p.Ala1887=) c.5730C>G (p.Ala1910=) c.5358C>G (p.Ala1786=) c.5514C>G (p.Ala1838=) c.5721C>G (p.Ala1907=) c.5022C>G (p.Ala1674=) c.5769C>G (p.Ala1923=) | dbSNP |
16 | g.3729272G>T | CA493394020 | CREBBP | c.5775C>A (p.Ala1925=) c.5661C>A (p.Ala1887=) c.5730C>A (p.Ala1910=) c.5358C>A (p.Ala1786=) c.5514C>A (p.Ala1838=) c.5721C>A (p.Ala1907=) c.5022C>A (p.Ala1674=) c.5769C>A (p.Ala1923=) | dbSNP gnomAD v4 |
16 | g.3729273G>A | CA394555560 | CREBBP | c.5774C>T (p.Ala1925Val) c.5660C>T (p.Ala1887Val) c.5729C>T (p.Ala1910Val) c.5357C>T (p.Ala1786Val) c.5513C>T (p.Ala1838Val) c.5720C>T (p.Ala1907Val) c.5021C>T (p.Ala1674Val) c.5768C>T (p.Ala1923Val) | dbSNP gnomAD v4 |
16 | g.3729273G>C | CA394555561 | CREBBP | c.5774C>G (p.Ala1925Gly) c.5660C>G (p.Ala1887Gly) c.5729C>G (p.Ala1910Gly) c.5357C>G (p.Ala1786Gly) c.5513C>G (p.Ala1838Gly) c.5720C>G (p.Ala1907Gly) c.5021C>G (p.Ala1674Gly) c.5768C>G (p.Ala1923Gly) | dbSNP |
16 | g.3729273G= | CA2202916324 | CREBBP | c.5774C= (p.Ala1925=) c.5660C= (p.Ala1887=) c.5729C= (p.Ala1910=) c.5357C= (p.Ala1786=) c.5513C= (p.Ala1838=) c.5720C= (p.Ala1907=) c.5021C= (p.Ala1674=) c.5768C= (p.Ala1923=) | |
16 | g.3729273G>T | CA394555563 | CREBBP | c.5774C>A (p.Ala1925Asp) c.5660C>A (p.Ala1887Asp) c.5729C>A (p.Ala1910Asp) c.5357C>A (p.Ala1786Asp) c.5513C>A (p.Ala1838Asp) c.5720C>A (p.Ala1907Asp) c.5021C>A (p.Ala1674Asp) c.5768C>A (p.Ala1923Asp) | dbSNP gnomAD v4 |
16 | g.3729274C>A | CA394555564 | CREBBP | c.5773G>T (p.Ala1925Ser) c.5659G>T (p.Ala1887Ser) c.5728G>T (p.Ala1910Ser) c.5356G>T (p.Ala1786Ser) c.5512G>T (p.Ala1838Ser) c.5719G>T (p.Ala1907Ser) c.5020G>T (p.Ala1674Ser) c.5767G>T (p.Ala1923Ser) | dbSNP gnomAD v4 |
16 | g.3729274C= | CA2202916325 | CREBBP | c.5773G= (p.Ala1925=) c.5659G= (p.Ala1887=) c.5728G= (p.Ala1910=) c.5356G= (p.Ala1786=) c.5512G= (p.Ala1838=) c.5719G= (p.Ala1907=) c.5020G= (p.Ala1674=) c.5767G= (p.Ala1923=) | |
16 | g.3729274C>G | CA394555565 | CREBBP | c.5773G>C (p.Ala1925Pro) c.5659G>C (p.Ala1887Pro) c.5728G>C (p.Ala1910Pro) c.5356G>C (p.Ala1786Pro) c.5512G>C (p.Ala1838Pro) c.5719G>C (p.Ala1907Pro) c.5020G>C (p.Ala1674Pro) c.5767G>C (p.Ala1923Pro) | |
16 | g.3729274C>T | CA276972066 | CREBBP | c.5773G>A (p.Ala1925Thr) c.5659G>A (p.Ala1887Thr) c.5728G>A (p.Ala1910Thr) c.5356G>A (p.Ala1786Thr) c.5512G>A (p.Ala1838Thr) c.5719G>A (p.Ala1907Thr) c.5020G>A (p.Ala1674Thr) c.5767G>A (p.Ala1923Thr) | dbSNP gnomAD v4 |
16 | g.3729275C>A | CA493394021 | CREBBP | c.5772G>T (p.Val1924=) c.5658G>T (p.Val1886=) c.5727G>T (p.Val1909=) c.5355G>T (p.Val1785=) c.5511G>T (p.Val1837=) c.5718G>T (p.Val1906=) c.5019G>T (p.Val1673=) c.5766G>T (p.Val1922=) | dbSNP gnomAD v4 |
16 | g.3729275C= | CA2202916326 | CREBBP | c.5772G= (p.Val1924=) c.5658G= (p.Val1886=) c.5727G= (p.Val1909=) c.5355G= (p.Val1785=) c.5511G= (p.Val1837=) c.5718G= (p.Val1906=) c.5019G= (p.Val1673=) c.5766G= (p.Val1922=) | |
16 | g.3729275C>G | CA493394022 | CREBBP | c.5772G>C (p.Val1924=) c.5658G>C (p.Val1886=) c.5727G>C (p.Val1909=) c.5355G>C (p.Val1785=) c.5511G>C (p.Val1837=) c.5718G>C (p.Val1906=) c.5019G>C (p.Val1673=) c.5766G>C (p.Val1922=) | |
16 | g.3729275C>T | CA493394024 | CREBBP | c.5772G>A (p.Val1924=) c.5658G>A (p.Val1886=) c.5727G>A (p.Val1909=) c.5355G>A (p.Val1785=) c.5511G>A (p.Val1837=) c.5718G>A (p.Val1906=) c.5019G>A (p.Val1673=) c.5766G>A (p.Val1922=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729276A= | CA2202916327 | CREBBP | c.5771T= (p.Val1924=) c.5657T= (p.Val1886=) c.5726T= (p.Val1909=) c.5354T= (p.Val1785=) c.5510T= (p.Val1837=) c.5717T= (p.Val1906=) c.5018T= (p.Val1673=) c.5765T= (p.Val1922=) | |
16 | g.3729276A>C | CA394555566 | CREBBP | c.5771T>G (p.Val1924Gly) c.5657T>G (p.Val1886Gly) c.5726T>G (p.Val1909Gly) c.5354T>G (p.Val1785Gly) c.5510T>G (p.Val1837Gly) c.5717T>G (p.Val1906Gly) c.5018T>G (p.Val1673Gly) c.5765T>G (p.Val1922Gly) | dbSNP |
16 | g.3729276A>G | CA394555567 | CREBBP | c.5771T>C (p.Val1924Ala) c.5657T>C (p.Val1886Ala) c.5726T>C (p.Val1909Ala) c.5354T>C (p.Val1785Ala) c.5510T>C (p.Val1837Ala) c.5717T>C (p.Val1906Ala) c.5018T>C (p.Val1673Ala) c.5765T>C (p.Val1922Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729276A>T | CA394555568 | CREBBP | c.5771T>A (p.Val1924Glu) c.5657T>A (p.Val1886Glu) c.5726T>A (p.Val1909Glu) c.5354T>A (p.Val1785Glu) c.5510T>A (p.Val1837Glu) c.5717T>A (p.Val1906Glu) c.5018T>A (p.Val1673Glu) c.5765T>A (p.Val1922Glu) | dbSNP |
16 | g.3729277C>A | CA394555569 | CREBBP | c.5770G>T (p.Val1924Leu) c.5656G>T (p.Val1886Leu) c.5725G>T (p.Val1909Leu) c.5353G>T (p.Val1785Leu) c.5509G>T (p.Val1837Leu) c.5716G>T (p.Val1906Leu) c.5017G>T (p.Val1673Leu) c.5764G>T (p.Val1922Leu) | dbSNP |
16 | g.3729277C= | CA2202916328 | CREBBP | c.5770G= (p.Val1924=) c.5656G= (p.Val1886=) c.5725G= (p.Val1909=) c.5353G= (p.Val1785=) c.5509G= (p.Val1837=) c.5716G= (p.Val1906=) c.5017G= (p.Val1673=) c.5764G= (p.Val1922=) | |
16 | g.3729277C>G | CA394555570 | CREBBP | c.5770G>C (p.Val1924Leu) c.5656G>C (p.Val1886Leu) c.5725G>C (p.Val1909Leu) c.5353G>C (p.Val1785Leu) c.5509G>C (p.Val1837Leu) c.5716G>C (p.Val1906Leu) c.5017G>C (p.Val1673Leu) c.5764G>C (p.Val1922Leu) | dbSNP gnomAD v4 |
16 | g.3729277C>T | CA158197 | CREBBP | c.5770G>A (p.Val1924Met) c.5656G>A (p.Val1886Met) c.5725G>A (p.Val1909Met) c.5353G>A (p.Val1785Met) c.5509G>A (p.Val1837Met) c.5716G>A (p.Val1906Met) c.5017G>A (p.Val1673Met) c.5764G>A (p.Val1922Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729278G>A | CA7869248 | CREBBP | c.5769C>T (p.Ser1923=) c.5655C>T (p.Ser1885=) c.5724C>T (p.Ser1908=) c.5352C>T (p.Ser1784=) c.5508C>T (p.Ser1836=) c.5715C>T (p.Ser1905=) c.5016C>T (p.Ser1672=) c.5763C>T (p.Ser1921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729278G>C | CA394555571 | CREBBP | c.5769C>G (p.Ser1923Arg) c.5655C>G (p.Ser1885Arg) c.5724C>G (p.Ser1908Arg) c.5352C>G (p.Ser1784Arg) c.5508C>G (p.Ser1836Arg) c.5715C>G (p.Ser1905Arg) c.5016C>G (p.Ser1672Arg) c.5763C>G (p.Ser1921Arg) | dbSNP gnomAD v4 |
16 | g.3729278G= | CA2202916329 | CREBBP | c.5769C= (p.Ser1923=) c.5655C= (p.Ser1885=) c.5724C= (p.Ser1908=) c.5352C= (p.Ser1784=) c.5508C= (p.Ser1836=) c.5715C= (p.Ser1905=) c.5016C= (p.Ser1672=) c.5763C= (p.Ser1921=) | |
16 | g.3729278G>T | CA394555572 | CREBBP | c.5769C>A (p.Ser1923Arg) c.5655C>A (p.Ser1885Arg) c.5724C>A (p.Ser1908Arg) c.5352C>A (p.Ser1784Arg) c.5508C>A (p.Ser1836Arg) c.5715C>A (p.Ser1905Arg) c.5016C>A (p.Ser1672Arg) c.5763C>A (p.Ser1921Arg) | dbSNP gnomAD v4 |
16 | g.3729279C>A | CA394555573 | CREBBP | c.5768G>T (p.Ser1923Ile) c.5654G>T (p.Ser1885Ile) c.5723G>T (p.Ser1908Ile) c.5351G>T (p.Ser1784Ile) c.5507G>T (p.Ser1836Ile) c.5714G>T (p.Ser1905Ile) c.5015G>T (p.Ser1672Ile) c.5762G>T (p.Ser1921Ile) | dbSNP gnomAD v4 |
16 | g.3729279C>G | CA394555574 | CREBBP | c.5768G>C (p.Ser1923Thr) c.5654G>C (p.Ser1885Thr) c.5723G>C (p.Ser1908Thr) c.5351G>C (p.Ser1784Thr) c.5507G>C (p.Ser1836Thr) c.5714G>C (p.Ser1905Thr) c.5015G>C (p.Ser1672Thr) c.5762G>C (p.Ser1921Thr) | dbSNP |
16 | g.3729279C>T | CA394555575 | CREBBP | c.5768G>A (p.Ser1923Asn) c.5654G>A (p.Ser1885Asn) c.5723G>A (p.Ser1908Asn) c.5351G>A (p.Ser1784Asn) c.5507G>A (p.Ser1836Asn) c.5714G>A (p.Ser1905Asn) c.5015G>A (p.Ser1672Asn) c.5762G>A (p.Ser1921Asn) | dbSNP gnomAD v4 |
16 | g.3729280T>A | CA394555576 | CREBBP | c.5767A>T (p.Ser1923Cys) c.5653A>T (p.Ser1885Cys) c.5722A>T (p.Ser1908Cys) c.5350A>T (p.Ser1784Cys) c.5506A>T (p.Ser1836Cys) c.5713A>T (p.Ser1905Cys) c.5014A>T (p.Ser1672Cys) c.5761A>T (p.Ser1921Cys) | |
16 | g.3729280T>C | CA394555577 | CREBBP | c.5767A>G (p.Ser1923Gly) c.5653A>G (p.Ser1885Gly) c.5722A>G (p.Ser1908Gly) c.5350A>G (p.Ser1784Gly) c.5506A>G (p.Ser1836Gly) c.5713A>G (p.Ser1905Gly) c.5014A>G (p.Ser1672Gly) c.5761A>G (p.Ser1921Gly) | gnomAD v4 |
16 | g.3729280T>G | CA394555578 | CREBBP | c.5767A>C (p.Ser1923Arg) c.5653A>C (p.Ser1885Arg) c.5722A>C (p.Ser1908Arg) c.5350A>C (p.Ser1784Arg) c.5506A>C (p.Ser1836Arg) c.5713A>C (p.Ser1905Arg) c.5014A>C (p.Ser1672Arg) c.5761A>C (p.Ser1921Arg) | |
16 | g.3729281G>A | CA493394030 | CREBBP | c.5766C>T (p.Pro1922=) c.5652C>T (p.Pro1884=) c.5721C>T (p.Pro1907=) c.5349C>T (p.Pro1783=) c.5505C>T (p.Pro1835=) c.5712C>T (p.Pro1904=) c.5013C>T (p.Pro1671=) c.5760C>T (p.Pro1920=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729281G>C | CA493394029 | CREBBP | c.5766C>G (p.Pro1922=) c.5652C>G (p.Pro1884=) c.5721C>G (p.Pro1907=) c.5349C>G (p.Pro1783=) c.5505C>G (p.Pro1835=) c.5712C>G (p.Pro1904=) c.5013C>G (p.Pro1671=) c.5760C>G (p.Pro1920=) | dbSNP |
16 | g.3729281G= | CA2202916330 | CREBBP | c.5766C= (p.Pro1922=) c.5652C= (p.Pro1884=) c.5721C= (p.Pro1907=) c.5349C= (p.Pro1783=) c.5505C= (p.Pro1835=) c.5712C= (p.Pro1904=) c.5013C= (p.Pro1671=) c.5760C= (p.Pro1920=) | |
16 | g.3729281G>T | CA493394028 | CREBBP | c.5766C>A (p.Pro1922=) c.5652C>A (p.Pro1884=) c.5721C>A (p.Pro1907=) c.5349C>A (p.Pro1783=) c.5505C>A (p.Pro1835=) c.5712C>A (p.Pro1904=) c.5013C>A (p.Pro1671=) c.5760C>A (p.Pro1920=) | |
16 | g.3729284del | CA2631403629 | CREBBP | c.5766del (p.Ser1923AlafsTer?) c.5652del (p.Ser1885AlafsTer?) c.5721del (p.Ser1908AlafsTer?) c.5349del (p.Ser1784AlafsTer?) c.5505del (p.Ser1836AlafsTer?) c.5712del (p.Ser1905AlafsTer?) c.5013del (p.Ser1672AlafsTer?) c.5760del (p.Ser1921AlafsTer?) | gnomAD v4 |
16 | g.3729282G>A | CA394555579 | CREBBP | c.5765C>T (p.Pro1922Leu) c.5651C>T (p.Pro1884Leu) c.5720C>T (p.Pro1907Leu) c.5348C>T (p.Pro1783Leu) c.5504C>T (p.Pro1835Leu) c.5711C>T (p.Pro1904Leu) c.5012C>T (p.Pro1671Leu) c.5759C>T (p.Pro1920Leu) | dbSNP |
16 | g.3729282G>C | CA394555580 | CREBBP | c.5765C>G (p.Pro1922Arg) c.5651C>G (p.Pro1884Arg) c.5720C>G (p.Pro1907Arg) c.5348C>G (p.Pro1783Arg) c.5504C>G (p.Pro1835Arg) c.5711C>G (p.Pro1904Arg) c.5012C>G (p.Pro1671Arg) c.5759C>G (p.Pro1920Arg) | dbSNP |
16 | g.3729282G>T | CA394555581 | CREBBP | c.5765C>A (p.Pro1922His) c.5651C>A (p.Pro1884His) c.5720C>A (p.Pro1907His) c.5348C>A (p.Pro1783His) c.5504C>A (p.Pro1835His) c.5711C>A (p.Pro1904His) c.5012C>A (p.Pro1671His) c.5759C>A (p.Pro1920His) | dbSNP |
16 | g.3729283G>A | CA394555582 | CREBBP | c.5764C>T (p.Pro1922Ser) c.5650C>T (p.Pro1884Ser) c.5719C>T (p.Pro1907Ser) c.5347C>T (p.Pro1783Ser) c.5503C>T (p.Pro1835Ser) c.5710C>T (p.Pro1904Ser) c.5011C>T (p.Pro1671Ser) c.5758C>T (p.Pro1920Ser) | gnomAD v4 |
16 | g.3729283G>C | CA276972073 | CREBBP | c.5764C>G (p.Pro1922Ala) c.5650C>G (p.Pro1884Ala) c.5719C>G (p.Pro1907Ala) c.5347C>G (p.Pro1783Ala) c.5503C>G (p.Pro1835Ala) c.5710C>G (p.Pro1904Ala) c.5011C>G (p.Pro1671Ala) c.5758C>G (p.Pro1920Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729283G= | CA2202916331 | CREBBP | c.5764C= (p.Pro1922=) c.5650C= (p.Pro1884=) c.5719C= (p.Pro1907=) c.5347C= (p.Pro1783=) c.5503C= (p.Pro1835=) c.5710C= (p.Pro1904=) c.5011C= (p.Pro1671=) c.5758C= (p.Pro1920=) | |
16 | g.3729283G>T | CA394555583 | CREBBP | c.5764C>A (p.Pro1922Thr) c.5650C>A (p.Pro1884Thr) c.5719C>A (p.Pro1907Thr) c.5347C>A (p.Pro1783Thr) c.5503C>A (p.Pro1835Thr) c.5710C>A (p.Pro1904Thr) c.5011C>A (p.Pro1671Thr) c.5758C>A (p.Pro1920Thr) | |
16 | g.3729284G>A | CA493394032 | CREBBP | c.5763C>T (p.Phe1921=) c.5649C>T (p.Phe1883=) c.5718C>T (p.Phe1906=) c.5346C>T (p.Phe1782=) c.5502C>T (p.Phe1834=) c.5709C>T (p.Phe1903=) c.5010C>T (p.Phe1670=) c.5757C>T (p.Phe1919=) | dbSNP |
16 | g.3729284G>C | CA394555584 | CREBBP | c.5763C>G (p.Phe1921Leu) c.5649C>G (p.Phe1883Leu) c.5718C>G (p.Phe1906Leu) c.5346C>G (p.Phe1782Leu) c.5502C>G (p.Phe1834Leu) c.5709C>G (p.Phe1903Leu) c.5010C>G (p.Phe1670Leu) c.5757C>G (p.Phe1919Leu) | ClinVar dbSNP |
16 | g.3729284G= | CA2202916332 | CREBBP | c.5763C= (p.Phe1921=) c.5649C= (p.Phe1883=) c.5718C= (p.Phe1906=) c.5346C= (p.Phe1782=) c.5502C= (p.Phe1834=) c.5709C= (p.Phe1903=) c.5010C= (p.Phe1670=) c.5757C= (p.Phe1919=) | |
16 | g.3729284G>T | CA394555585 | CREBBP | c.5763C>A (p.Phe1921Leu) c.5649C>A (p.Phe1883Leu) c.5718C>A (p.Phe1906Leu) c.5346C>A (p.Phe1782Leu) c.5502C>A (p.Phe1834Leu) c.5709C>A (p.Phe1903Leu) c.5010C>A (p.Phe1670Leu) c.5757C>A (p.Phe1919Leu) | dbSNP gnomAD v4 |
16 | g.3729285A>C | CA394555586 | CREBBP | c.5762T>G (p.Phe1921Cys) c.5648T>G (p.Phe1883Cys) c.5717T>G (p.Phe1906Cys) c.5345T>G (p.Phe1782Cys) c.5501T>G (p.Phe1834Cys) c.5708T>G (p.Phe1903Cys) c.5009T>G (p.Phe1670Cys) c.5756T>G (p.Phe1919Cys) | |
16 | g.3729285A>G | CA394555587 | CREBBP | c.5762T>C (p.Phe1921Ser) c.5648T>C (p.Phe1883Ser) c.5717T>C (p.Phe1906Ser) c.5345T>C (p.Phe1782Ser) c.5501T>C (p.Phe1834Ser) c.5708T>C (p.Phe1903Ser) c.5009T>C (p.Phe1670Ser) c.5756T>C (p.Phe1919Ser) | dbSNP |
16 | g.3729285A>T | CA394555588 | CREBBP | c.5762T>A (p.Phe1921Tyr) c.5648T>A (p.Phe1883Tyr) c.5717T>A (p.Phe1906Tyr) c.5345T>A (p.Phe1782Tyr) c.5501T>A (p.Phe1834Tyr) c.5708T>A (p.Phe1903Tyr) c.5009T>A (p.Phe1670Tyr) c.5756T>A (p.Phe1919Tyr) | dbSNP |
16 | g.3729286A= | CA2202916333 | CREBBP | c.5761T= (p.Phe1921=) c.5647T= (p.Phe1883=) c.5716T= (p.Phe1906=) c.5344T= (p.Phe1782=) c.5500T= (p.Phe1834=) c.5707T= (p.Phe1903=) c.5008T= (p.Phe1670=) c.5755T= (p.Phe1919=) | |
16 | g.3729286A>C | CA394555589 | CREBBP | c.5761T>G (p.Phe1921Val) c.5647T>G (p.Phe1883Val) c.5716T>G (p.Phe1906Val) c.5344T>G (p.Phe1782Val) c.5500T>G (p.Phe1834Val) c.5707T>G (p.Phe1903Val) c.5008T>G (p.Phe1670Val) c.5755T>G (p.Phe1919Val) | |
16 | g.3729286A>G | CA276972076 | CREBBP | c.5761T>C (p.Phe1921Leu) c.5647T>C (p.Phe1883Leu) c.5716T>C (p.Phe1906Leu) c.5344T>C (p.Phe1782Leu) c.5500T>C (p.Phe1834Leu) c.5707T>C (p.Phe1903Leu) c.5008T>C (p.Phe1670Leu) c.5755T>C (p.Phe1919Leu) | dbSNP gnomAD v4 |
16 | g.3729286A>T | CA394555590 | CREBBP | c.5761T>A (p.Phe1921Ile) c.5647T>A (p.Phe1883Ile) c.5716T>A (p.Phe1906Ile) c.5344T>A (p.Phe1782Ile) c.5500T>A (p.Phe1834Ile) c.5707T>A (p.Phe1903Ile) c.5008T>A (p.Phe1670Ile) c.5755T>A (p.Phe1919Ile) | dbSNP |
16 | g.3729287G>A | CA493394035 | CREBBP | c.5760C>T (p.Gly1920=) c.5646C>T (p.Gly1882=) c.5715C>T (p.Gly1905=) c.5343C>T (p.Gly1781=) c.5499C>T (p.Gly1833=) c.5706C>T (p.Gly1902=) c.5007C>T (p.Gly1669=) c.5754C>T (p.Gly1918=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729287G>C | CA493394036 | CREBBP | c.5760C>G (p.Gly1920=) c.5646C>G (p.Gly1882=) c.5715C>G (p.Gly1905=) c.5343C>G (p.Gly1781=) c.5499C>G (p.Gly1833=) c.5706C>G (p.Gly1902=) c.5007C>G (p.Gly1669=) c.5754C>G (p.Gly1918=) | |
16 | g.3729287G= | CA2202916334 | CREBBP | c.5760C= (p.Gly1920=) c.5646C= (p.Gly1882=) c.5715C= (p.Gly1905=) c.5343C= (p.Gly1781=) c.5499C= (p.Gly1833=) c.5706C= (p.Gly1902=) c.5007C= (p.Gly1669=) c.5754C= (p.Gly1918=) | |
16 | g.3729287G>T | CA493394037 | CREBBP | c.5760C>A (p.Gly1920=) c.5646C>A (p.Gly1882=) c.5715C>A (p.Gly1905=) c.5343C>A (p.Gly1781=) c.5499C>A (p.Gly1833=) c.5706C>A (p.Gly1902=) c.5007C>A (p.Gly1669=) c.5754C>A (p.Gly1918=) | gnomAD v4 |
16 | g.3729288C>A | CA394555591 | CREBBP | c.5759G>T (p.Gly1920Val) c.5645G>T (p.Gly1882Val) c.5714G>T (p.Gly1905Val) c.5342G>T (p.Gly1781Val) c.5498G>T (p.Gly1833Val) c.5705G>T (p.Gly1902Val) c.5006G>T (p.Gly1669Val) c.5753G>T (p.Gly1918Val) | dbSNP gnomAD v4 |
16 | g.3729288C>G | CA394555592 | CREBBP | c.5759G>C (p.Gly1920Ala) c.5645G>C (p.Gly1882Ala) c.5714G>C (p.Gly1905Ala) c.5342G>C (p.Gly1781Ala) c.5498G>C (p.Gly1833Ala) c.5705G>C (p.Gly1902Ala) c.5006G>C (p.Gly1669Ala) c.5753G>C (p.Gly1918Ala) | dbSNP |
16 | g.3729288C>T | CA394555593 | CREBBP | c.5759G>A (p.Gly1920Asp) c.5645G>A (p.Gly1882Asp) c.5714G>A (p.Gly1905Asp) c.5342G>A (p.Gly1781Asp) c.5498G>A (p.Gly1833Asp) c.5705G>A (p.Gly1902Asp) c.5006G>A (p.Gly1669Asp) c.5753G>A (p.Gly1918Asp) | dbSNP gnomAD v4 |
16 | g.3729289C>A | CA394555594 | CREBBP | c.5758G>T (p.Gly1920Cys) c.5644G>T (p.Gly1882Cys) c.5713G>T (p.Gly1905Cys) c.5341G>T (p.Gly1781Cys) c.5497G>T (p.Gly1833Cys) c.5704G>T (p.Gly1902Cys) c.5005G>T (p.Gly1669Cys) c.5752G>T (p.Gly1918Cys) | gnomAD v4 |
16 | g.3729289C>G | CA394555595 | CREBBP | c.5758G>C (p.Gly1920Arg) c.5644G>C (p.Gly1882Arg) c.5713G>C (p.Gly1905Arg) c.5341G>C (p.Gly1781Arg) c.5497G>C (p.Gly1833Arg) c.5704G>C (p.Gly1902Arg) c.5005G>C (p.Gly1669Arg) c.5752G>C (p.Gly1918Arg) | dbSNP |
16 | g.3729289C>T | CA394555596 | CREBBP | c.5758G>A (p.Gly1920Ser) c.5644G>A (p.Gly1882Ser) c.5713G>A (p.Gly1905Ser) c.5341G>A (p.Gly1781Ser) c.5497G>A (p.Gly1833Ser) c.5704G>A (p.Gly1902Ser) c.5005G>A (p.Gly1669Ser) c.5752G>A (p.Gly1918Ser) | dbSNP |
16 | g.3729290A= | CA2202916335 | CREBBP | c.5757T= (p.Ala1919=) c.5643T= (p.Ala1881=) c.5712T= (p.Ala1904=) c.5340T= (p.Ala1780=) c.5496T= (p.Ala1832=) c.5703T= (p.Ala1901=) c.5004T= (p.Ala1668=) c.5751T= (p.Ala1917=) | |
16 | g.3729290A>C | CA493394038 | CREBBP | c.5757T>G (p.Ala1919=) c.5643T>G (p.Ala1881=) c.5712T>G (p.Ala1904=) c.5340T>G (p.Ala1780=) c.5496T>G (p.Ala1832=) c.5703T>G (p.Ala1901=) c.5004T>G (p.Ala1668=) c.5751T>G (p.Ala1917=) | |
16 | g.3729290A>G | CA493394039 | CREBBP | c.5757T>C (p.Ala1919=) c.5643T>C (p.Ala1881=) c.5712T>C (p.Ala1904=) c.5340T>C (p.Ala1780=) c.5496T>C (p.Ala1832=) c.5703T>C (p.Ala1901=) c.5004T>C (p.Ala1668=) c.5751T>C (p.Ala1917=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729290A>T | CA493394040 | CREBBP | c.5757T>A (p.Ala1919=) c.5643T>A (p.Ala1881=) c.5712T>A (p.Ala1904=) c.5340T>A (p.Ala1780=) c.5496T>A (p.Ala1832=) c.5703T>A (p.Ala1901=) c.5004T>A (p.Ala1668=) c.5751T>A (p.Ala1917=) | dbSNP |
16 | g.3729291G>A | CA394555599 | CREBBP | c.5756C>T (p.Ala1919Val) c.5642C>T (p.Ala1881Val) c.5711C>T (p.Ala1904Val) c.5339C>T (p.Ala1780Val) c.5495C>T (p.Ala1832Val) c.5702C>T (p.Ala1901Val) c.5003C>T (p.Ala1668Val) c.5750C>T (p.Ala1917Val) | dbSNP |
16 | g.3729291G>C | CA394555597 | CREBBP | c.5756C>G (p.Ala1919Gly) c.5642C>G (p.Ala1881Gly) c.5711C>G (p.Ala1904Gly) c.5339C>G (p.Ala1780Gly) c.5495C>G (p.Ala1832Gly) c.5702C>G (p.Ala1901Gly) c.5003C>G (p.Ala1668Gly) c.5750C>G (p.Ala1917Gly) | dbSNP |
16 | g.3729291G>T | CA394555598 | CREBBP | c.5756C>A (p.Ala1919Asp) c.5642C>A (p.Ala1881Asp) c.5711C>A (p.Ala1904Asp) c.5339C>A (p.Ala1780Asp) c.5495C>A (p.Ala1832Asp) c.5702C>A (p.Ala1901Asp) c.5003C>A (p.Ala1668Asp) c.5750C>A (p.Ala1917Asp) | gnomAD v4 |
16 | g.3729292C>A | CA394555600 | CREBBP | c.5755G>T (p.Ala1919Ser) c.5641G>T (p.Ala1881Ser) c.5710G>T (p.Ala1904Ser) c.5338G>T (p.Ala1780Ser) c.5494G>T (p.Ala1832Ser) c.5701G>T (p.Ala1901Ser) c.5002G>T (p.Ala1668Ser) c.5749G>T (p.Ala1917Ser) | dbSNP gnomAD v4 |
16 | g.3729292C>G | CA394555601 | CREBBP | c.5755G>C (p.Ala1919Pro) c.5641G>C (p.Ala1881Pro) c.5710G>C (p.Ala1904Pro) c.5338G>C (p.Ala1780Pro) c.5494G>C (p.Ala1832Pro) c.5701G>C (p.Ala1901Pro) c.5002G>C (p.Ala1668Pro) c.5749G>C (p.Ala1917Pro) | dbSNP gnomAD v4 |
16 | g.3729292C>T | CA394555602 | CREBBP | c.5755G>A (p.Ala1919Thr) c.5641G>A (p.Ala1881Thr) c.5710G>A (p.Ala1904Thr) c.5338G>A (p.Ala1780Thr) c.5494G>A (p.Ala1832Thr) c.5701G>A (p.Ala1901Thr) c.5002G>A (p.Ala1668Thr) c.5749G>A (p.Ala1917Thr) | dbSNP gnomAD v4 |
16 | g.3729293T>A | CA493394041 | CREBBP | c.5754A>T (p.Pro1918=) c.5640A>T (p.Pro1880=) c.5709A>T (p.Pro1903=) c.5337A>T (p.Pro1779=) c.5493A>T (p.Pro1831=) c.5700A>T (p.Pro1900=) c.5001A>T (p.Pro1667=) c.5748A>T (p.Pro1916=) | dbSNP |
16 | g.3729293T>C | CA493394042 | CREBBP | c.5754A>G (p.Pro1918=) c.5640A>G (p.Pro1880=) c.5709A>G (p.Pro1903=) c.5337A>G (p.Pro1779=) c.5493A>G (p.Pro1831=) c.5700A>G (p.Pro1900=) c.5001A>G (p.Pro1667=) c.5748A>G (p.Pro1916=) | |
16 | g.3729293T>G | CA493394043 | CREBBP | c.5754A>C (p.Pro1918=) c.5640A>C (p.Pro1880=) c.5709A>C (p.Pro1903=) c.5337A>C (p.Pro1779=) c.5493A>C (p.Pro1831=) c.5700A>C (p.Pro1900=) c.5001A>C (p.Pro1667=) c.5748A>C (p.Pro1916=) | dbSNP |
16 | g.3729294G>A | CA394555603 | CREBBP | c.5753C>T (p.Pro1918Leu) c.5639C>T (p.Pro1880Leu) c.5708C>T (p.Pro1903Leu) c.5336C>T (p.Pro1779Leu) c.5492C>T (p.Pro1831Leu) c.5699C>T (p.Pro1900Leu) c.5000C>T (p.Pro1667Leu) c.5747C>T (p.Pro1916Leu) | ClinVar dbSNP |
16 | g.3729294G>C | CA394555604 | CREBBP | c.5753C>G (p.Pro1918Arg) c.5639C>G (p.Pro1880Arg) c.5708C>G (p.Pro1903Arg) c.5336C>G (p.Pro1779Arg) c.5492C>G (p.Pro1831Arg) c.5699C>G (p.Pro1900Arg) c.5000C>G (p.Pro1667Arg) c.5747C>G (p.Pro1916Arg) | |
16 | g.3729294G>T | CA394555605 | CREBBP | c.5753C>A (p.Pro1918Gln) c.5639C>A (p.Pro1880Gln) c.5708C>A (p.Pro1903Gln) c.5336C>A (p.Pro1779Gln) c.5492C>A (p.Pro1831Gln) c.5699C>A (p.Pro1900Gln) c.5000C>A (p.Pro1667Gln) c.5747C>A (p.Pro1916Gln) | gnomAD v4 |
16 | g.3729295G>A | CA394555606 | CREBBP | c.5752C>T (p.Pro1918Ser) c.5638C>T (p.Pro1880Ser) c.5707C>T (p.Pro1903Ser) c.5335C>T (p.Pro1779Ser) c.5491C>T (p.Pro1831Ser) c.5698C>T (p.Pro1900Ser) c.4999C>T (p.Pro1667Ser) c.5746C>T (p.Pro1916Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729295G>C | CA394555607 | CREBBP | c.5752C>G (p.Pro1918Ala) c.5638C>G (p.Pro1880Ala) c.5707C>G (p.Pro1903Ala) c.5335C>G (p.Pro1779Ala) c.5491C>G (p.Pro1831Ala) c.5698C>G (p.Pro1900Ala) c.4999C>G (p.Pro1667Ala) c.5746C>G (p.Pro1916Ala) | dbSNP |
16 | g.3729295G= | CA2202916336 | CREBBP | c.5752C= (p.Pro1918=) c.5638C= (p.Pro1880=) c.5707C= (p.Pro1903=) c.5335C= (p.Pro1779=) c.5491C= (p.Pro1831=) c.5698C= (p.Pro1900=) c.4999C= (p.Pro1667=) c.5746C= (p.Pro1916=) | |
16 | g.3729295G>T | CA394555608 | CREBBP | c.5752C>A (p.Pro1918Thr) c.5638C>A (p.Pro1880Thr) c.5707C>A (p.Pro1903Thr) c.5335C>A (p.Pro1779Thr) c.5491C>A (p.Pro1831Thr) c.5698C>A (p.Pro1900Thr) c.4999C>A (p.Pro1667Thr) c.5746C>A (p.Pro1916Thr) | gnomAD v4 |
16 | g.3729296T>A | CA493394045 | CREBBP | c.5751A>T (p.Ser1917=) c.5637A>T (p.Ser1879=) c.5706A>T (p.Ser1902=) c.5334A>T (p.Ser1778=) c.5490A>T (p.Ser1830=) c.5697A>T (p.Ser1899=) c.4998A>T (p.Ser1666=) c.5745A>T (p.Ser1915=) | dbSNP |
16 | g.3729296T>C | CA493394046 | CREBBP | c.5751A>G (p.Ser1917=) c.5637A>G (p.Ser1879=) c.5706A>G (p.Ser1902=) c.5334A>G (p.Ser1778=) c.5490A>G (p.Ser1830=) c.5697A>G (p.Ser1899=) c.4998A>G (p.Ser1666=) c.5745A>G (p.Ser1915=) | gnomAD v4 |
16 | g.3729296T>G | CA493394047 | CREBBP | c.5751A>C (p.Ser1917=) c.5637A>C (p.Ser1879=) c.5706A>C (p.Ser1902=) c.5334A>C (p.Ser1778=) c.5490A>C (p.Ser1830=) c.5697A>C (p.Ser1899=) c.4998A>C (p.Ser1666=) c.5745A>C (p.Ser1915=) | |
16 | g.3729297G>A | CA394555609 | CREBBP | c.5750C>T (p.Ser1917Leu) c.5636C>T (p.Ser1879Leu) c.5705C>T (p.Ser1902Leu) c.5333C>T (p.Ser1778Leu) c.5489C>T (p.Ser1830Leu) c.5696C>T (p.Ser1899Leu) c.4997C>T (p.Ser1666Leu) c.5744C>T (p.Ser1915Leu) | dbSNP gnomAD v4 |
16 | g.3729297G>C | CA394555610 | CREBBP | c.5750C>G (p.Ser1917Ter) c.5636C>G (p.Ser1879Ter) c.5705C>G (p.Ser1902Ter) c.5333C>G (p.Ser1778Ter) c.5489C>G (p.Ser1830Ter) c.5696C>G (p.Ser1899Ter) c.4997C>G (p.Ser1666Ter) c.5744C>G (p.Ser1915Ter) | dbSNP |
16 | g.3729297G>T | CA394555611 | CREBBP | c.5750C>A (p.Ser1917Ter) c.5636C>A (p.Ser1879Ter) c.5705C>A (p.Ser1902Ter) c.5333C>A (p.Ser1778Ter) c.5489C>A (p.Ser1830Ter) c.5696C>A (p.Ser1899Ter) c.4997C>A (p.Ser1666Ter) c.5744C>A (p.Ser1915Ter) | dbSNP gnomAD v4 |
16 | g.3729298A>C | CA394555613 | CREBBP | c.5749T>G (p.Ser1917Ala) c.5635T>G (p.Ser1879Ala) c.5704T>G (p.Ser1902Ala) c.5332T>G (p.Ser1778Ala) c.5488T>G (p.Ser1830Ala) c.5695T>G (p.Ser1899Ala) c.4996T>G (p.Ser1666Ala) c.5743T>G (p.Ser1915Ala) | dbSNP |
16 | g.3729298A>G | CA394555614 | CREBBP | c.5749T>C (p.Ser1917Pro) c.5635T>C (p.Ser1879Pro) c.5704T>C (p.Ser1902Pro) c.5332T>C (p.Ser1778Pro) c.5488T>C (p.Ser1830Pro) c.5695T>C (p.Ser1899Pro) c.4996T>C (p.Ser1666Pro) c.5743T>C (p.Ser1915Pro) | dbSNP |
16 | g.3729298A>T | CA394555612 | CREBBP | c.5749T>A (p.Ser1917Thr) c.5635T>A (p.Ser1879Thr) c.5704T>A (p.Ser1902Thr) c.5332T>A (p.Ser1778Thr) c.5488T>A (p.Ser1830Thr) c.5695T>A (p.Ser1899Thr) c.4996T>A (p.Ser1666Thr) c.5743T>A (p.Ser1915Thr) | dbSNP |
16 | g.3729299C>A | CA394555615 | CREBBP | c.5748G>T (p.Met1916Ile) c.5634G>T (p.Met1878Ile) c.5703G>T (p.Met1901Ile) c.5331G>T (p.Met1777Ile) c.5487G>T (p.Met1829Ile) c.5694G>T (p.Met1898Ile) c.4995G>T (p.Met1665Ile) c.5742G>T (p.Met1914Ile) | |
16 | g.3729299C>G | CA394555616 | CREBBP | c.5748G>C (p.Met1916Ile) c.5634G>C (p.Met1878Ile) c.5703G>C (p.Met1901Ile) c.5331G>C (p.Met1777Ile) c.5487G>C (p.Met1829Ile) c.5694G>C (p.Met1898Ile) c.4995G>C (p.Met1665Ile) c.5742G>C (p.Met1914Ile) | dbSNP |
16 | g.3729299C>T | CA394555617 | CREBBP | c.5748G>A (p.Met1916Ile) c.5634G>A (p.Met1878Ile) c.5703G>A (p.Met1901Ile) c.5331G>A (p.Met1777Ile) c.5487G>A (p.Met1829Ile) c.5694G>A (p.Met1898Ile) c.4995G>A (p.Met1665Ile) c.5742G>A (p.Met1914Ile) | dbSNP |
16 | g.3729300A= | CA2202916337 | CREBBP | c.5747T= (p.Met1916=) c.5633T= (p.Met1878=) c.5702T= (p.Met1901=) c.5330T= (p.Met1777=) c.5486T= (p.Met1829=) c.5693T= (p.Met1898=) c.4994T= (p.Met1665=) c.5741T= (p.Met1914=) | |
16 | g.3729300A>C | CA394555618 | CREBBP | c.5747T>G (p.Met1916Arg) c.5633T>G (p.Met1878Arg) c.5702T>G (p.Met1901Arg) c.5330T>G (p.Met1777Arg) c.5486T>G (p.Met1829Arg) c.5693T>G (p.Met1898Arg) c.4994T>G (p.Met1665Arg) c.5741T>G (p.Met1914Arg) | |
16 | g.3729300A>G | CA7869249 | CREBBP | c.5747T>C (p.Met1916Thr) c.5633T>C (p.Met1878Thr) c.5702T>C (p.Met1901Thr) c.5330T>C (p.Met1777Thr) c.5486T>C (p.Met1829Thr) c.5693T>C (p.Met1898Thr) c.4994T>C (p.Met1665Thr) c.5741T>C (p.Met1914Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729300A>T | CA394555619 | CREBBP | c.5747T>A (p.Met1916Lys) c.5633T>A (p.Met1878Lys) c.5702T>A (p.Met1901Lys) c.5330T>A (p.Met1777Lys) c.5486T>A (p.Met1829Lys) c.5693T>A (p.Met1898Lys) c.4994T>A (p.Met1665Lys) c.5741T>A (p.Met1914Lys) | dbSNP |
16 | g.3729301T>A | CA394555622 | CREBBP | c.5746A>T (p.Met1916Leu) c.5632A>T (p.Met1878Leu) c.5701A>T (p.Met1901Leu) c.5329A>T (p.Met1777Leu) c.5485A>T (p.Met1829Leu) c.5692A>T (p.Met1898Leu) c.4993A>T (p.Met1665Leu) c.5740A>T (p.Met1914Leu) | dbSNP |
16 | g.3729301T>C | CA394555620 | CREBBP | c.5746A>G (p.Met1916Val) c.5632A>G (p.Met1878Val) c.5701A>G (p.Met1901Val) c.5329A>G (p.Met1777Val) c.5485A>G (p.Met1829Val) c.5692A>G (p.Met1898Val) c.4993A>G (p.Met1665Val) c.5740A>G (p.Met1914Val) | dbSNP |
16 | g.3729301T>G | CA394555621 | CREBBP | c.5746A>C (p.Met1916Leu) c.5632A>C (p.Met1878Leu) c.5701A>C (p.Met1901Leu) c.5329A>C (p.Met1777Leu) c.5485A>C (p.Met1829Leu) c.5692A>C (p.Met1898Leu) c.4993A>C (p.Met1665Leu) c.5740A>C (p.Met1914Leu) | dbSNP |
16 | g.3729302G>A | CA493394051 | CREBBP | c.5745C>T (p.Ser1915=) c.5631C>T (p.Ser1877=) c.5700C>T (p.Ser1900=) c.5328C>T (p.Ser1776=) c.5484C>T (p.Ser1828=) c.5691C>T (p.Ser1897=) c.4992C>T (p.Ser1664=) c.5739C>T (p.Ser1913=) | dbSNP |
16 | g.3729302G>C | CA394555623 | CREBBP | c.5745C>G (p.Ser1915Arg) c.5631C>G (p.Ser1877Arg) c.5700C>G (p.Ser1900Arg) c.5328C>G (p.Ser1776Arg) c.5484C>G (p.Ser1828Arg) c.5691C>G (p.Ser1897Arg) c.4992C>G (p.Ser1664Arg) c.5739C>G (p.Ser1913Arg) | dbSNP |
16 | g.3729302G>T | CA394555624 | CREBBP | c.5745C>A (p.Ser1915Arg) c.5631C>A (p.Ser1877Arg) c.5700C>A (p.Ser1900Arg) c.5328C>A (p.Ser1776Arg) c.5484C>A (p.Ser1828Arg) c.5691C>A (p.Ser1897Arg) c.4992C>A (p.Ser1664Arg) c.5739C>A (p.Ser1913Arg) | gnomAD v4 |
16 | g.3729303C>A | CA394555625 | CREBBP | c.5744G>T (p.Ser1915Ile) c.5630G>T (p.Ser1877Ile) c.5699G>T (p.Ser1900Ile) c.5327G>T (p.Ser1776Ile) c.5483G>T (p.Ser1828Ile) c.5690G>T (p.Ser1897Ile) c.4991G>T (p.Ser1664Ile) c.5738G>T (p.Ser1913Ile) | dbSNP |
16 | g.3729303C>G | CA394555626 | CREBBP | c.5744G>C (p.Ser1915Thr) c.5630G>C (p.Ser1877Thr) c.5699G>C (p.Ser1900Thr) c.5327G>C (p.Ser1776Thr) c.5483G>C (p.Ser1828Thr) c.5690G>C (p.Ser1897Thr) c.4991G>C (p.Ser1664Thr) c.5738G>C (p.Ser1913Thr) | dbSNP |
16 | g.3729303C>T | CA394555627 | CREBBP | c.5744G>A (p.Ser1915Asn) c.5630G>A (p.Ser1877Asn) c.5699G>A (p.Ser1900Asn) c.5327G>A (p.Ser1776Asn) c.5483G>A (p.Ser1828Asn) c.5690G>A (p.Ser1897Asn) c.4991G>A (p.Ser1664Asn) c.5738G>A (p.Ser1913Asn) | dbSNP gnomAD v4 |
16 | g.3729304T>A | CA394555630 | CREBBP | c.5743A>T (p.Ser1915Cys) c.5629A>T (p.Ser1877Cys) c.5698A>T (p.Ser1900Cys) c.5326A>T (p.Ser1776Cys) c.5482A>T (p.Ser1828Cys) c.5689A>T (p.Ser1897Cys) c.4990A>T (p.Ser1664Cys) c.5737A>T (p.Ser1913Cys) | dbSNP |
16 | g.3729304T>C | CA394555628 | CREBBP | c.5743A>G (p.Ser1915Gly) c.5629A>G (p.Ser1877Gly) c.5698A>G (p.Ser1900Gly) c.5326A>G (p.Ser1776Gly) c.5482A>G (p.Ser1828Gly) c.5689A>G (p.Ser1897Gly) c.4990A>G (p.Ser1664Gly) c.5737A>G (p.Ser1913Gly) | |
16 | g.3729304T>G | CA394555629 | CREBBP | c.5743A>C (p.Ser1915Arg) c.5629A>C (p.Ser1877Arg) c.5698A>C (p.Ser1900Arg) c.5326A>C (p.Ser1776Arg) c.5482A>C (p.Ser1828Arg) c.5689A>C (p.Ser1897Arg) c.4990A>C (p.Ser1664Arg) c.5737A>C (p.Ser1913Arg) | |
16 | g.3729305C>A | CA493394054 | CREBBP | c.5742G>T (p.Val1914=) c.5628G>T (p.Val1876=) c.5697G>T (p.Val1899=) c.5325G>T (p.Val1775=) c.5481G>T (p.Val1827=) c.5688G>T (p.Val1896=) c.4989G>T (p.Val1663=) c.5736G>T (p.Val1912=) | dbSNP gnomAD v4 |
16 | g.3729305C= | CA2202916338 | CREBBP | c.5742G= (p.Val1914=) c.5628G= (p.Val1876=) c.5697G= (p.Val1899=) c.5325G= (p.Val1775=) c.5481G= (p.Val1827=) c.5688G= (p.Val1896=) c.4989G= (p.Val1663=) c.5736G= (p.Val1912=) | |
16 | g.3729305C>G | CA493394052 | CREBBP | c.5742G>C (p.Val1914=) c.5628G>C (p.Val1876=) c.5697G>C (p.Val1899=) c.5325G>C (p.Val1775=) c.5481G>C (p.Val1827=) c.5688G>C (p.Val1896=) c.4989G>C (p.Val1663=) c.5736G>C (p.Val1912=) | dbSNP |
16 | g.3729305C>T | CA493394053 | CREBBP | c.5742G>A (p.Val1914=) c.5628G>A (p.Val1876=) c.5697G>A (p.Val1899=) c.5325G>A (p.Val1775=) c.5481G>A (p.Val1827=) c.5688G>A (p.Val1896=) c.4989G>A (p.Val1663=) c.5736G>A (p.Val1912=) | dbSNP gnomAD v4 |
16 | g.3729306A>C | CA394555631 | CREBBP | c.5741T>G (p.Val1914Gly) c.5627T>G (p.Val1876Gly) c.5696T>G (p.Val1899Gly) c.5324T>G (p.Val1775Gly) c.5480T>G (p.Val1827Gly) c.5687T>G (p.Val1896Gly) c.4988T>G (p.Val1663Gly) c.5735T>G (p.Val1912Gly) | |
16 | g.3729306A>G | CA394555632 | CREBBP | c.5741T>C (p.Val1914Ala) c.5627T>C (p.Val1876Ala) c.5696T>C (p.Val1899Ala) c.5324T>C (p.Val1775Ala) c.5480T>C (p.Val1827Ala) c.5687T>C (p.Val1896Ala) c.4988T>C (p.Val1663Ala) c.5735T>C (p.Val1912Ala) | gnomAD v4 |
16 | g.3729306A>T | CA394555633 | CREBBP | c.5741T>A (p.Val1914Glu) c.5627T>A (p.Val1876Glu) c.5696T>A (p.Val1899Glu) c.5324T>A (p.Val1775Glu) c.5480T>A (p.Val1827Glu) c.5687T>A (p.Val1896Glu) c.4988T>A (p.Val1663Glu) c.5735T>A (p.Val1912Glu) | |
16 | g.3729307C>A | CA394555634 | CREBBP | c.5740G>T (p.Val1914Leu) c.5626G>T (p.Val1876Leu) c.5695G>T (p.Val1899Leu) c.5323G>T (p.Val1775Leu) c.5479G>T (p.Val1827Leu) c.5686G>T (p.Val1896Leu) c.4987G>T (p.Val1663Leu) c.5734G>T (p.Val1912Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729307C= | CA2202916339 | CREBBP | c.5740G= (p.Val1914=) c.5626G= (p.Val1876=) c.5695G= (p.Val1899=) c.5323G= (p.Val1775=) c.5479G= (p.Val1827=) c.5686G= (p.Val1896=) c.4987G= (p.Val1663=) c.5734G= (p.Val1912=) | |
16 | g.3729307C>G | CA7869251 | CREBBP | c.5740G>C (p.Val1914Leu) c.5626G>C (p.Val1876Leu) c.5695G>C (p.Val1899Leu) c.5323G>C (p.Val1775Leu) c.5479G>C (p.Val1827Leu) c.5686G>C (p.Val1896Leu) c.4987G>C (p.Val1663Leu) c.5734G>C (p.Val1912Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729307C>T | CA7869250 | CREBBP | c.5740G>A (p.Val1914Met) c.5626G>A (p.Val1876Met) c.5695G>A (p.Val1899Met) c.5323G>A (p.Val1775Met) c.5479G>A (p.Val1827Met) c.5686G>A (p.Val1896Met) c.4987G>A (p.Val1663Met) c.5734G>A (p.Val1912Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729308G>A | CA7869252 | CREBBP | c.5739C>T (p.Pro1913=) c.5625C>T (p.Pro1875=) c.5694C>T (p.Pro1898=) c.5322C>T (p.Pro1774=) c.5478C>T (p.Pro1826=) c.5685C>T (p.Pro1895=) c.4986C>T (p.Pro1662=) c.5733C>T (p.Pro1911=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729308G>C | CA493394056 | CREBBP | c.5739C>G (p.Pro1913=) c.5625C>G (p.Pro1875=) c.5694C>G (p.Pro1898=) c.5322C>G (p.Pro1774=) c.5478C>G (p.Pro1826=) c.5685C>G (p.Pro1895=) c.4986C>G (p.Pro1662=) c.5733C>G (p.Pro1911=) | dbSNP |
16 | g.3729308G= | CA2202916340 | CREBBP | c.5739C= (p.Pro1913=) c.5625C= (p.Pro1875=) c.5694C= (p.Pro1898=) c.5322C= (p.Pro1774=) c.5478C= (p.Pro1826=) c.5685C= (p.Pro1895=) c.4986C= (p.Pro1662=) c.5733C= (p.Pro1911=) | |
16 | g.3729308G>T | CA493394057 | CREBBP | c.5739C>A (p.Pro1913=) c.5625C>A (p.Pro1875=) c.5694C>A (p.Pro1898=) c.5322C>A (p.Pro1774=) c.5478C>A (p.Pro1826=) c.5685C>A (p.Pro1895=) c.4986C>A (p.Pro1662=) c.5733C>A (p.Pro1911=) | dbSNP gnomAD v4 |
16 | g.3729309G>A | CA394555635 | CREBBP | c.5738C>T (p.Pro1913Leu) c.5624C>T (p.Pro1875Leu) c.5693C>T (p.Pro1898Leu) c.5321C>T (p.Pro1774Leu) c.5477C>T (p.Pro1826Leu) c.5684C>T (p.Pro1895Leu) c.4985C>T (p.Pro1662Leu) c.5732C>T (p.Pro1911Leu) | dbSNP gnomAD v4 |
16 | g.3729309G>C | CA394555636 | CREBBP | c.5738C>G (p.Pro1913Arg) c.5624C>G (p.Pro1875Arg) c.5693C>G (p.Pro1898Arg) c.5321C>G (p.Pro1774Arg) c.5477C>G (p.Pro1826Arg) c.5684C>G (p.Pro1895Arg) c.4985C>G (p.Pro1662Arg) c.5732C>G (p.Pro1911Arg) | |
16 | g.3729309G>T | CA394555637 | CREBBP | c.5738C>A (p.Pro1913His) c.5624C>A (p.Pro1875His) c.5693C>A (p.Pro1898His) c.5321C>A (p.Pro1774His) c.5477C>A (p.Pro1826His) c.5684C>A (p.Pro1895His) c.4985C>A (p.Pro1662His) c.5732C>A (p.Pro1911His) | dbSNP gnomAD v4 |
16 | g.3729310G>A | CA394555638 | CREBBP | c.5737C>T (p.Pro1913Ser) c.5623C>T (p.Pro1875Ser) c.5692C>T (p.Pro1898Ser) c.5320C>T (p.Pro1774Ser) c.5476C>T (p.Pro1826Ser) c.5683C>T (p.Pro1895Ser) c.4984C>T (p.Pro1662Ser) c.5731C>T (p.Pro1911Ser) | dbSNP |
16 | g.3729310G>C | CA394555639 | CREBBP | c.5737C>G (p.Pro1913Ala) c.5623C>G (p.Pro1875Ala) c.5692C>G (p.Pro1898Ala) c.5320C>G (p.Pro1774Ala) c.5476C>G (p.Pro1826Ala) c.5683C>G (p.Pro1895Ala) c.4984C>G (p.Pro1662Ala) c.5731C>G (p.Pro1911Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729310G= | CA2202916341 | CREBBP | c.5737C= (p.Pro1913=) c.5623C= (p.Pro1875=) c.5692C= (p.Pro1898=) c.5320C= (p.Pro1774=) c.5476C= (p.Pro1826=) c.5683C= (p.Pro1895=) c.4984C= (p.Pro1662=) c.5731C= (p.Pro1911=) | |
16 | g.3729310G>T | CA394555640 | CREBBP | c.5737C>A (p.Pro1913Thr) c.5623C>A (p.Pro1875Thr) c.5692C>A (p.Pro1898Thr) c.5320C>A (p.Pro1774Thr) c.5476C>A (p.Pro1826Thr) c.5683C>A (p.Pro1895Thr) c.4984C>A (p.Pro1662Thr) c.5731C>A (p.Pro1911Thr) | gnomAD v4 |
16 | g.3729311T>A | CA493394058 | CREBBP | c.5736A>T (p.Ser1912=) c.5622A>T (p.Ser1874=) c.5691A>T (p.Ser1897=) c.5319A>T (p.Ser1773=) c.5475A>T (p.Ser1825=) c.5682A>T (p.Ser1894=) c.4983A>T (p.Ser1661=) c.5730A>T (p.Ser1910=) | dbSNP |
16 | g.3729311T>C | CA493394061 | CREBBP | c.5736A>G (p.Ser1912=) c.5622A>G (p.Ser1874=) c.5691A>G (p.Ser1897=) c.5319A>G (p.Ser1773=) c.5475A>G (p.Ser1825=) c.5682A>G (p.Ser1894=) c.4983A>G (p.Ser1661=) c.5730A>G (p.Ser1910=) | dbSNP |
16 | g.3729311T>G | CA493394060 | CREBBP | c.5736A>C (p.Ser1912=) c.5622A>C (p.Ser1874=) c.5691A>C (p.Ser1897=) c.5319A>C (p.Ser1773=) c.5475A>C (p.Ser1825=) c.5682A>C (p.Ser1894=) c.4983A>C (p.Ser1661=) c.5730A>C (p.Ser1910=) | dbSNP gnomAD v4 |
16 | g.3729311T= | CA2202916342 | CREBBP | c.5736A= (p.Ser1912=) c.5622A= (p.Ser1874=) c.5691A= (p.Ser1897=) c.5319A= (p.Ser1773=) c.5475A= (p.Ser1825=) c.5682A= (p.Ser1894=) c.4983A= (p.Ser1661=) c.5730A= (p.Ser1910=) | |
16 | g.3729312G>A | CA394555641 | CREBBP | c.5735C>T (p.Ser1912Leu) c.5621C>T (p.Ser1874Leu) c.5690C>T (p.Ser1897Leu) c.5318C>T (p.Ser1773Leu) c.5474C>T (p.Ser1825Leu) c.5681C>T (p.Ser1894Leu) c.4982C>T (p.Ser1661Leu) c.5729C>T (p.Ser1910Leu) | dbSNP |
16 | g.3729312G>C | CA394555643 | CREBBP | c.5735C>G (p.Ser1912Ter) c.5621C>G (p.Ser1874Ter) c.5690C>G (p.Ser1897Ter) c.5318C>G (p.Ser1773Ter) c.5474C>G (p.Ser1825Ter) c.5681C>G (p.Ser1894Ter) c.4982C>G (p.Ser1661Ter) c.5729C>G (p.Ser1910Ter) | dbSNP |
16 | g.3729312G>T | CA394555642 | CREBBP | c.5735C>A (p.Ser1912Ter) c.5621C>A (p.Ser1874Ter) c.5690C>A (p.Ser1897Ter) c.5318C>A (p.Ser1773Ter) c.5474C>A (p.Ser1825Ter) c.5681C>A (p.Ser1894Ter) c.4982C>A (p.Ser1661Ter) c.5729C>A (p.Ser1910Ter) | gnomAD v4 |
16 | g.3729313A= | CA2202916343 | CREBBP | c.5734T= (p.Ser1912=) c.5620T= (p.Ser1874=) c.5689T= (p.Ser1897=) c.5317T= (p.Ser1773=) c.5473T= (p.Ser1825=) c.5680T= (p.Ser1894=) c.4981T= (p.Ser1661=) c.5728T= (p.Ser1910=) | |
16 | g.3729313A>C | CA394555644 | CREBBP | c.5734T>G (p.Ser1912Ala) c.5620T>G (p.Ser1874Ala) c.5689T>G (p.Ser1897Ala) c.5317T>G (p.Ser1773Ala) c.5473T>G (p.Ser1825Ala) c.5680T>G (p.Ser1894Ala) c.4981T>G (p.Ser1661Ala) c.5728T>G (p.Ser1910Ala) | dbSNP |
16 | g.3729313A>G | CA394555645 | CREBBP | c.5734T>C (p.Ser1912Pro) c.5620T>C (p.Ser1874Pro) c.5689T>C (p.Ser1897Pro) c.5317T>C (p.Ser1773Pro) c.5473T>C (p.Ser1825Pro) c.5680T>C (p.Ser1894Pro) c.4981T>C (p.Ser1661Pro) c.5728T>C (p.Ser1910Pro) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729313A>T | CA394555646 | CREBBP | c.5734T>A (p.Ser1912Thr) c.5620T>A (p.Ser1874Thr) c.5689T>A (p.Ser1897Thr) c.5317T>A (p.Ser1773Thr) c.5473T>A (p.Ser1825Thr) c.5680T>A (p.Ser1894Thr) c.4981T>A (p.Ser1661Thr) c.5728T>A (p.Ser1910Thr) | dbSNP |
16 | g.3729314G>A | CA493394062 | CREBBP | c.5733C>T (p.Pro1911=) c.5619C>T (p.Pro1873=) c.5688C>T (p.Pro1896=) c.5316C>T (p.Pro1772=) c.5472C>T (p.Pro1824=) c.5679C>T (p.Pro1893=) c.4980C>T (p.Pro1660=) c.5727C>T (p.Pro1909=) | dbSNP |
16 | g.3729314G>C | CA493394063 | CREBBP | c.5733C>G (p.Pro1911=) c.5619C>G (p.Pro1873=) c.5688C>G (p.Pro1896=) c.5316C>G (p.Pro1772=) c.5472C>G (p.Pro1824=) c.5679C>G (p.Pro1893=) c.4980C>G (p.Pro1660=) c.5727C>G (p.Pro1909=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729314G= | CA2202916344 | CREBBP | c.5733C= (p.Pro1911=) c.5619C= (p.Pro1873=) c.5688C= (p.Pro1896=) c.5316C= (p.Pro1772=) c.5472C= (p.Pro1824=) c.5679C= (p.Pro1893=) c.4980C= (p.Pro1660=) c.5727C= (p.Pro1909=) | |
16 | g.3729314G>T | CA493394064 | CREBBP | c.5733C>A (p.Pro1911=) c.5619C>A (p.Pro1873=) c.5688C>A (p.Pro1896=) c.5316C>A (p.Pro1772=) c.5472C>A (p.Pro1824=) c.5679C>A (p.Pro1893=) c.4980C>A (p.Pro1660=) c.5727C>A (p.Pro1909=) | dbSNP gnomAD v4 |
16 | g.3729315G>A | CA394555647 | CREBBP | c.5732C>T (p.Pro1911Leu) c.5618C>T (p.Pro1873Leu) c.5687C>T (p.Pro1896Leu) c.5315C>T (p.Pro1772Leu) c.5471C>T (p.Pro1824Leu) c.5678C>T (p.Pro1893Leu) c.4979C>T (p.Pro1660Leu) c.5726C>T (p.Pro1909Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.3729315G>C | CA394555648 | CREBBP | c.5732C>G (p.Pro1911Arg) c.5618C>G (p.Pro1873Arg) c.5687C>G (p.Pro1896Arg) c.5315C>G (p.Pro1772Arg) c.5471C>G (p.Pro1824Arg) c.5678C>G (p.Pro1893Arg) c.4979C>G (p.Pro1660Arg) c.5726C>G (p.Pro1909Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729315G= | CA2202916345 | CREBBP | c.5732C= (p.Pro1911=) c.5618C= (p.Pro1873=) c.5687C= (p.Pro1896=) c.5315C= (p.Pro1772=) c.5471C= (p.Pro1824=) c.5678C= (p.Pro1893=) c.4979C= (p.Pro1660=) c.5726C= (p.Pro1909=) | |
16 | g.3729315G>T | CA394555649 | CREBBP | c.5732C>A (p.Pro1911His) c.5618C>A (p.Pro1873His) c.5687C>A (p.Pro1896His) c.5315C>A (p.Pro1772His) c.5471C>A (p.Pro1824His) c.5678C>A (p.Pro1893His) c.4979C>A (p.Pro1660His) c.5726C>A (p.Pro1909His) | dbSNP gnomAD v4 |
16 | g.3729316G>A | CA394555652 | CREBBP | c.5731C>T (p.Pro1911Ser) c.5617C>T (p.Pro1873Ser) c.5686C>T (p.Pro1896Ser) c.5314C>T (p.Pro1772Ser) c.5470C>T (p.Pro1824Ser) c.5677C>T (p.Pro1893Ser) c.4978C>T (p.Pro1660Ser) c.5725C>T (p.Pro1909Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729316G>C | CA394555650 | CREBBP | c.5731C>G (p.Pro1911Ala) c.5617C>G (p.Pro1873Ala) c.5686C>G (p.Pro1896Ala) c.5314C>G (p.Pro1772Ala) c.5470C>G (p.Pro1824Ala) c.5677C>G (p.Pro1893Ala) c.4978C>G (p.Pro1660Ala) c.5725C>G (p.Pro1909Ala) | dbSNP |
16 | g.3729316G= | CA2202916346 | CREBBP | c.5731C= (p.Pro1911=) c.5617C= (p.Pro1873=) c.5686C= (p.Pro1896=) c.5314C= (p.Pro1772=) c.5470C= (p.Pro1824=) c.5677C= (p.Pro1893=) c.4978C= (p.Pro1660=) c.5725C= (p.Pro1909=) | |
16 | g.3729316G>T | CA394555651 | CREBBP | c.5731C>A (p.Pro1911Thr) c.5617C>A (p.Pro1873Thr) c.5686C>A (p.Pro1896Thr) c.5314C>A (p.Pro1772Thr) c.5470C>A (p.Pro1824Thr) c.5677C>A (p.Pro1893Thr) c.4978C>A (p.Pro1660Thr) c.5725C>A (p.Pro1909Thr) | |
16 | g.3729317T>A | CA394555653 | CREBBP | c.5730A>T (p.Gln1910His) c.5616A>T (p.Gln1872His) c.5685A>T (p.Gln1895His) c.5313A>T (p.Gln1771His) c.5469A>T (p.Gln1823His) c.5676A>T (p.Gln1892His) c.4977A>T (p.Gln1659His) c.5724A>T (p.Gln1908His) | dbSNP gnomAD v4 |
16 | g.3729317T>C | CA493394068 | CREBBP | c.5730A>G (p.Gln1910=) c.5616A>G (p.Gln1872=) c.5685A>G (p.Gln1895=) c.5313A>G (p.Gln1771=) c.5469A>G (p.Gln1823=) c.5676A>G (p.Gln1892=) c.4977A>G (p.Gln1659=) c.5724A>G (p.Gln1908=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729317T>G | CA394555654 | CREBBP | c.5730A>C (p.Gln1910His) c.5616A>C (p.Gln1872His) c.5685A>C (p.Gln1895His) c.5313A>C (p.Gln1771His) c.5469A>C (p.Gln1823His) c.5676A>C (p.Gln1892His) c.4977A>C (p.Gln1659His) c.5724A>C (p.Gln1908His) | dbSNP |
16 | g.3729317T= | CA2202916347 | CREBBP | c.5730A= (p.Gln1910=) c.5616A= (p.Gln1872=) c.5685A= (p.Gln1895=) c.5313A= (p.Gln1771=) c.5469A= (p.Gln1823=) c.5676A= (p.Gln1892=) c.4977A= (p.Gln1659=) c.5724A= (p.Gln1908=) | |
16 | g.3729318T>A | CA394555655 | CREBBP | c.5729A>T (p.Gln1910Leu) c.5615A>T (p.Gln1872Leu) c.5684A>T (p.Gln1895Leu) c.5312A>T (p.Gln1771Leu) c.5468A>T (p.Gln1823Leu) c.5675A>T (p.Gln1892Leu) c.4976A>T (p.Gln1659Leu) c.5723A>T (p.Gln1908Leu) | |
16 | g.3729318T>C | CA394555656 | CREBBP | c.5729A>G (p.Gln1910Arg) c.5615A>G (p.Gln1872Arg) c.5684A>G (p.Gln1895Arg) c.5312A>G (p.Gln1771Arg) c.5468A>G (p.Gln1823Arg) c.5675A>G (p.Gln1892Arg) c.4976A>G (p.Gln1659Arg) c.5723A>G (p.Gln1908Arg) | |
16 | g.3729318T>G | CA394555657 | CREBBP | c.5729A>C (p.Gln1910Pro) c.5615A>C (p.Gln1872Pro) c.5684A>C (p.Gln1895Pro) c.5312A>C (p.Gln1771Pro) c.5468A>C (p.Gln1823Pro) c.5675A>C (p.Gln1892Pro) c.4976A>C (p.Gln1659Pro) c.5723A>C (p.Gln1908Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729318T= | CA2202916348 | CREBBP | c.5729A= (p.Gln1910=) c.5615A= (p.Gln1872=) c.5684A= (p.Gln1895=) c.5312A= (p.Gln1771=) c.5468A= (p.Gln1823=) c.5675A= (p.Gln1892=) c.4976A= (p.Gln1659=) c.5723A= (p.Gln1908=) | |
16 | g.3729319G>A | CA394555658 | CREBBP | c.5728C>T (p.Gln1910Ter) c.5614C>T (p.Gln1872Ter) c.5683C>T (p.Gln1895Ter) c.5311C>T (p.Gln1771Ter) c.5467C>T (p.Gln1823Ter) c.5674C>T (p.Gln1892Ter) c.4975C>T (p.Gln1659Ter) c.5722C>T (p.Gln1908Ter) | dbSNP |
16 | g.3729319G>C | CA394555660 | CREBBP | c.5728C>G (p.Gln1910Glu) c.5614C>G (p.Gln1872Glu) c.5683C>G (p.Gln1895Glu) c.5311C>G (p.Gln1771Glu) c.5467C>G (p.Gln1823Glu) c.5674C>G (p.Gln1892Glu) c.4975C>G (p.Gln1659Glu) c.5722C>G (p.Gln1908Glu) | |
16 | g.3729319G>T | CA394555659 | CREBBP | c.5728C>A (p.Gln1910Lys) c.5614C>A (p.Gln1872Lys) c.5683C>A (p.Gln1895Lys) c.5311C>A (p.Gln1771Lys) c.5467C>A (p.Gln1823Lys) c.5674C>A (p.Gln1892Lys) c.4975C>A (p.Gln1659Lys) c.5722C>A (p.Gln1908Lys) | dbSNP gnomAD v4 |
16 | g.3729322del | CA2731851208 | CREBBP | c.5728del (p.Gln1910AsnfsTer5) c.5614del (p.Gln1872AsnfsTer5) c.5683del (p.Gln1895AsnfsTer5) c.5311del (p.Gln1771AsnfsTer5) c.5467del (p.Gln1823AsnfsTer5) c.5674del (p.Gln1892AsnfsTer5) c.4975del (p.Gln1659AsnfsTer5) c.5722del (p.Gln1908AsnfsTer5) | dbSNP |
16 | g.3729320G>A | CA493394070 | CREBBP | c.5727C>T (p.Pro1909=) c.5613C>T (p.Pro1871=) c.5682C>T (p.Pro1894=) c.5310C>T (p.Pro1770=) c.5466C>T (p.Pro1822=) c.5673C>T (p.Pro1891=) c.4974C>T (p.Pro1658=) c.5721C>T (p.Pro1907=) | dbSNP gnomAD v4 |
16 | g.3729320G>C | CA493394072 | CREBBP | c.5727C>G (p.Pro1909=) c.5613C>G (p.Pro1871=) c.5682C>G (p.Pro1894=) c.5310C>G (p.Pro1770=) c.5466C>G (p.Pro1822=) c.5673C>G (p.Pro1891=) c.4974C>G (p.Pro1658=) c.5721C>G (p.Pro1907=) | dbSNP |
16 | g.3729320G= | CA2202916349 | CREBBP | c.5727C= (p.Pro1909=) c.5613C= (p.Pro1871=) c.5682C= (p.Pro1894=) c.5310C= (p.Pro1770=) c.5466C= (p.Pro1822=) c.5673C= (p.Pro1891=) c.4974C= (p.Pro1658=) c.5721C= (p.Pro1907=) | |
16 | g.3729320G>T | CA493394073 | CREBBP | c.5727C>A (p.Pro1909=) c.5613C>A (p.Pro1871=) c.5682C>A (p.Pro1894=) c.5310C>A (p.Pro1770=) c.5466C>A (p.Pro1822=) c.5673C>A (p.Pro1891=) c.4974C>A (p.Pro1658=) c.5721C>A (p.Pro1907=) | dbSNP gnomAD v4 |
16 | g.3729321G>A | CA394555661 | CREBBP | c.5726C>T (p.Pro1909Leu) c.5612C>T (p.Pro1871Leu) c.5681C>T (p.Pro1894Leu) c.5309C>T (p.Pro1770Leu) c.5465C>T (p.Pro1822Leu) c.5672C>T (p.Pro1891Leu) c.4973C>T (p.Pro1658Leu) c.5720C>T (p.Pro1907Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.3729321G>C | CA394555662 | CREBBP | c.5726C>G (p.Pro1909Arg) c.5612C>G (p.Pro1871Arg) c.5681C>G (p.Pro1894Arg) c.5309C>G (p.Pro1770Arg) c.5465C>G (p.Pro1822Arg) c.5672C>G (p.Pro1891Arg) c.4973C>G (p.Pro1658Arg) c.5720C>G (p.Pro1907Arg) | |
16 | g.3729321G>T | CA394555663 | CREBBP | c.5726C>A (p.Pro1909His) c.5612C>A (p.Pro1871His) c.5681C>A (p.Pro1894His) c.5309C>A (p.Pro1770His) c.5465C>A (p.Pro1822His) c.5672C>A (p.Pro1891His) c.4973C>A (p.Pro1658His) c.5720C>A (p.Pro1907His) | dbSNP gnomAD v4 |
16 | g.3729322G>A | CA394555664 | CREBBP | c.5725C>T (p.Pro1909Ser) c.5611C>T (p.Pro1871Ser) c.5680C>T (p.Pro1894Ser) c.5308C>T (p.Pro1770Ser) c.5464C>T (p.Pro1822Ser) c.5671C>T (p.Pro1891Ser) c.4972C>T (p.Pro1658Ser) c.5719C>T (p.Pro1907Ser) | |
16 | g.3729322G>C | CA394555665 | CREBBP | c.5725C>G (p.Pro1909Ala) c.5611C>G (p.Pro1871Ala) c.5680C>G (p.Pro1894Ala) c.5308C>G (p.Pro1770Ala) c.5464C>G (p.Pro1822Ala) c.5671C>G (p.Pro1891Ala) c.4972C>G (p.Pro1658Ala) c.5719C>G (p.Pro1907Ala) | |
16 | g.3729322G>T | CA394555666 | CREBBP | c.5725C>A (p.Pro1909Thr) c.5611C>A (p.Pro1871Thr) c.5680C>A (p.Pro1894Thr) c.5308C>A (p.Pro1770Thr) c.5464C>A (p.Pro1822Thr) c.5671C>A (p.Pro1891Thr) c.4972C>A (p.Pro1658Thr) c.5719C>A (p.Pro1907Thr) | gnomAD v4 |
16 | g.3729323C>A | CA394555667 | CREBBP | c.5724G>T (p.Gln1908His) c.5610G>T (p.Gln1870His) c.5679G>T (p.Gln1893His) c.5307G>T (p.Gln1769His) c.5463G>T (p.Gln1821His) c.5670G>T (p.Gln1890His) c.4971G>T (p.Gln1657His) c.5718G>T (p.Gln1906His) | dbSNP gnomAD v4 |
16 | g.3729323C= | CA2202916350 | CREBBP | c.5724G= (p.Gln1908=) c.5610G= (p.Gln1870=) c.5679G= (p.Gln1893=) c.5307G= (p.Gln1769=) c.5463G= (p.Gln1821=) c.5670G= (p.Gln1890=) c.4971G= (p.Gln1657=) c.5718G= (p.Gln1906=) | |
16 | g.3729323C>G | CA7869253 | CREBBP | c.5724G>C (p.Gln1908His) c.5610G>C (p.Gln1870His) c.5679G>C (p.Gln1893His) c.5307G>C (p.Gln1769His) c.5463G>C (p.Gln1821His) c.5670G>C (p.Gln1890His) c.4971G>C (p.Gln1657His) c.5718G>C (p.Gln1906His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729323C>T | CA493394074 | CREBBP | c.5724G>A (p.Gln1908=) c.5610G>A (p.Gln1870=) c.5679G>A (p.Gln1893=) c.5307G>A (p.Gln1769=) c.5463G>A (p.Gln1821=) c.5670G>A (p.Gln1890=) c.4971G>A (p.Gln1657=) c.5718G>A (p.Gln1906=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729324T>A | CA394555668 | CREBBP | c.5723A>T (p.Gln1908Leu) c.5609A>T (p.Gln1870Leu) c.5678A>T (p.Gln1893Leu) c.5306A>T (p.Gln1769Leu) c.5462A>T (p.Gln1821Leu) c.5669A>T (p.Gln1890Leu) c.4970A>T (p.Gln1657Leu) c.5717A>T (p.Gln1906Leu) | |
16 | g.3729324T>C | CA394555669 | CREBBP | c.5723A>G (p.Gln1908Arg) c.5609A>G (p.Gln1870Arg) c.5678A>G (p.Gln1893Arg) c.5306A>G (p.Gln1769Arg) c.5462A>G (p.Gln1821Arg) c.5669A>G (p.Gln1890Arg) c.4970A>G (p.Gln1657Arg) c.5717A>G (p.Gln1906Arg) | dbSNP gnomAD v4 COSMIC |
16 | g.3729324T>G | CA394555670 | CREBBP | c.5723A>C (p.Gln1908Pro) c.5609A>C (p.Gln1870Pro) c.5678A>C (p.Gln1893Pro) c.5306A>C (p.Gln1769Pro) c.5462A>C (p.Gln1821Pro) c.5669A>C (p.Gln1890Pro) c.4970A>C (p.Gln1657Pro) c.5717A>C (p.Gln1906Pro) | |
16 | g.3729324_3729325delinsTG | CA2202916351 | CREBBP | c.5722_5723delinsCA (p.Gln1908=) c.5608_5609delinsCA (p.Gln1870=) c.5677_5678delinsCA (p.Gln1893=) c.5305_5306delinsCA (p.Gln1769=) c.5461_5462delinsCA (p.Gln1821=) c.5668_5669delinsCA (p.Gln1890=) c.4969_4970delinsCA (p.Gln1657=) c.5716_5717delinsCA (p.Gln1906=) | |
16 | g.3729325G>A | CA394555671 | CREBBP | c.5722C>T (p.Gln1908Ter) c.5608C>T (p.Gln1870Ter) c.5677C>T (p.Gln1893Ter) c.5305C>T (p.Gln1769Ter) c.5461C>T (p.Gln1821Ter) c.5668C>T (p.Gln1890Ter) c.4969C>T (p.Gln1657Ter) c.5716C>T (p.Gln1906Ter) | dbSNP |
16 | g.3729325G>C | CA394555673 | CREBBP | c.5722C>G (p.Gln1908Glu) c.5608C>G (p.Gln1870Glu) c.5677C>G (p.Gln1893Glu) c.5305C>G (p.Gln1769Glu) c.5461C>G (p.Gln1821Glu) c.5668C>G (p.Gln1890Glu) c.4969C>G (p.Gln1657Glu) c.5716C>G (p.Gln1906Glu) | |
16 | g.3729325G>T | CA394555672 | CREBBP | c.5722C>A (p.Gln1908Lys) c.5608C>A (p.Gln1870Lys) c.5677C>A (p.Gln1893Lys) c.5305C>A (p.Gln1769Lys) c.5461C>A (p.Gln1821Lys) c.5668C>A (p.Gln1890Lys) c.4969C>A (p.Gln1657Lys) c.5716C>A (p.Gln1906Lys) | dbSNP gnomAD v4 |
16 | g.3729327del | CA915949068 | CREBBP | c.5722del (p.Gln1908SerfsTer7) c.5608del (p.Gln1870SerfsTer7) c.5677del (p.Gln1893SerfsTer7) c.5305del (p.Gln1769SerfsTer7) c.5461del (p.Gln1821SerfsTer7) c.5668del (p.Gln1890SerfsTer7) c.4969del (p.Gln1657SerfsTer7) c.5716del (p.Gln1906SerfsTer7) | ClinVar dbSNP gnomAD v4 |
16 | g.3729326G>A | CA493394076 | CREBBP | c.5721C>T (p.Ala1907=) c.5607C>T (p.Ala1869=) c.5676C>T (p.Ala1892=) c.5304C>T (p.Ala1768=) c.5460C>T (p.Ala1820=) c.5667C>T (p.Ala1889=) c.4968C>T (p.Ala1656=) c.5715C>T (p.Ala1905=) | dbSNP |
16 | g.3729326G>C | CA493394077 | CREBBP | c.5721C>G (p.Ala1907=) c.5607C>G (p.Ala1869=) c.5676C>G (p.Ala1892=) c.5304C>G (p.Ala1768=) c.5460C>G (p.Ala1820=) c.5667C>G (p.Ala1889=) c.4968C>G (p.Ala1656=) c.5715C>G (p.Ala1905=) | dbSNP |
16 | g.3729326G>T | CA493394078 | CREBBP | c.5721C>A (p.Ala1907=) c.5607C>A (p.Ala1869=) c.5676C>A (p.Ala1892=) c.5304C>A (p.Ala1768=) c.5460C>A (p.Ala1820=) c.5667C>A (p.Ala1889=) c.4968C>A (p.Ala1656=) c.5715C>A (p.Ala1905=) | dbSNP |