Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729746T>A | CA493394233 | CREBBP | c.5301A>T (p.Ser1767=) c.5187A>T (p.Ser1729=) c.5256A>T (p.Ser1752=) c.4884A>T (p.Ser1628=) c.5040A>T (p.Ser1680=) c.5247A>T (p.Ser1749=) c.4548A>T (p.Ser1516=) c.5295A>T (p.Ser1765=) | dbSNP |
16 | g.3729746T>C | CA493394234 | CREBBP | c.5301A>G (p.Ser1767=) c.5187A>G (p.Ser1729=) c.5256A>G (p.Ser1752=) c.4884A>G (p.Ser1628=) c.5040A>G (p.Ser1680=) c.5247A>G (p.Ser1749=) c.4548A>G (p.Ser1516=) c.5295A>G (p.Ser1765=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729746T>G | CA493394235 | CREBBP | c.5301A>C (p.Ser1767=) c.5187A>C (p.Ser1729=) c.5256A>C (p.Ser1752=) c.4884A>C (p.Ser1628=) c.5040A>C (p.Ser1680=) c.5247A>C (p.Ser1749=) c.4548A>C (p.Ser1516=) c.5295A>C (p.Ser1765=) | dbSNP |
16 | g.3729746T= | CA2202916513 | CREBBP | c.5301A= (p.Ser1767=) c.5187A= (p.Ser1729=) c.5256A= (p.Ser1752=) c.4884A= (p.Ser1628=) c.5040A= (p.Ser1680=) c.5247A= (p.Ser1749=) c.4548A= (p.Ser1516=) c.5295A= (p.Ser1765=) | |
16 | g.3729746_3729747insTGGGGGTTCTTT | CA2573152062 | CREBBP | c.5301_5302insAAGAACCCCCAA (p.Ser1767_Arg1768insLysAsnProGln) c.5187_5188insAAGAACCCCCAA (p.Ser1729_Arg1730insLysAsnProGln) c.5256_5257insAAGAACCCCCAA (p.Ser1752_Arg1753insLysAsnProGln) c.4884_4885insAAGAACCCCCAA (p.Ser1628_Arg1629insLysAsnProGln) c.5040_5041insAAGAACCCCCAA (p.Ser1680_Arg1681insLysAsnProGln) c.5247_5248insAAGAACCCCCAA (p.Ser1749_Arg1750insLysAsnProGln) c.4548_4549insAAGAACCCCCAA (p.Ser1516_Arg1517insLysAsnProGln) c.5295_5296insAAGAACCCCCAA (p.Ser1765_Arg1766insLysAsnProGln) | ClinVar dbSNP |
16 | g.3729747G>A | CA394557267 | CREBBP | c.5300C>T (p.Ser1767Leu) c.5186C>T (p.Ser1729Leu) c.5255C>T (p.Ser1752Leu) c.4883C>T (p.Ser1628Leu) c.5039C>T (p.Ser1680Leu) c.5246C>T (p.Ser1749Leu) c.4547C>T (p.Ser1516Leu) c.5294C>T (p.Ser1765Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729747G>C | CA394557269 | CREBBP | c.5300C>G (p.Ser1767Ter) c.5186C>G (p.Ser1729Ter) c.5255C>G (p.Ser1752Ter) c.4883C>G (p.Ser1628Ter) c.5039C>G (p.Ser1680Ter) c.5246C>G (p.Ser1749Ter) c.4547C>G (p.Ser1516Ter) c.5294C>G (p.Ser1765Ter) | dbSNP |
16 | g.3729747G= | CA2202916514 | CREBBP | c.5300C= (p.Ser1767=) c.5186C= (p.Ser1729=) c.5255C= (p.Ser1752=) c.4883C= (p.Ser1628=) c.5039C= (p.Ser1680=) c.5246C= (p.Ser1749=) c.4547C= (p.Ser1516=) c.5294C= (p.Ser1765=) | |
16 | g.3729747G>T | CA394557270 | CREBBP | c.5300C>A (p.Ser1767Ter) c.5186C>A (p.Ser1729Ter) c.5255C>A (p.Ser1752Ter) c.4883C>A (p.Ser1628Ter) c.5039C>A (p.Ser1680Ter) c.5246C>A (p.Ser1749Ter) c.4547C>A (p.Ser1516Ter) c.5294C>A (p.Ser1765Ter) | gnomAD v4 |
16 | g.3729748A>C | CA394557273 | CREBBP | c.5299T>G (p.Ser1767Ala) c.5185T>G (p.Ser1729Ala) c.5254T>G (p.Ser1752Ala) c.4882T>G (p.Ser1628Ala) c.5038T>G (p.Ser1680Ala) c.5245T>G (p.Ser1749Ala) c.4546T>G (p.Ser1516Ala) c.5293T>G (p.Ser1765Ala) | dbSNP |
16 | g.3729748A>G | CA394557275 | CREBBP | c.5299T>C (p.Ser1767Pro) c.5185T>C (p.Ser1729Pro) c.5254T>C (p.Ser1752Pro) c.4882T>C (p.Ser1628Pro) c.5038T>C (p.Ser1680Pro) c.5245T>C (p.Ser1749Pro) c.4546T>C (p.Ser1516Pro) c.5293T>C (p.Ser1765Pro) | dbSNP |
16 | g.3729748A>T | CA394557277 | CREBBP | c.5299T>A (p.Ser1767Thr) c.5185T>A (p.Ser1729Thr) c.5254T>A (p.Ser1752Thr) c.4882T>A (p.Ser1628Thr) c.5038T>A (p.Ser1680Thr) c.5245T>A (p.Ser1749Thr) c.4546T>A (p.Ser1516Thr) c.5293T>A (p.Ser1765Thr) | dbSNP |
16 | g.3729749C>A | CA394557279 | CREBBP | c.5298G>T (p.Glu1766Asp) c.5184G>T (p.Glu1728Asp) c.5253G>T (p.Glu1751Asp) c.4881G>T (p.Glu1627Asp) c.5037G>T (p.Glu1679Asp) c.5244G>T (p.Glu1748Asp) c.4545G>T (p.Glu1515Asp) c.5292G>T (p.Glu1764Asp) | dbSNP |
16 | g.3729749C>G | CA394557281 | CREBBP | c.5298G>C (p.Glu1766Asp) c.5184G>C (p.Glu1728Asp) c.5253G>C (p.Glu1751Asp) c.4881G>C (p.Glu1627Asp) c.5037G>C (p.Glu1679Asp) c.5244G>C (p.Glu1748Asp) c.4545G>C (p.Glu1515Asp) c.5292G>C (p.Glu1764Asp) | dbSNP |
16 | g.3729749C>T | CA493394237 | CREBBP | c.5298G>A (p.Glu1766=) c.5184G>A (p.Glu1728=) c.5253G>A (p.Glu1751=) c.4881G>A (p.Glu1627=) c.5037G>A (p.Glu1679=) c.5244G>A (p.Glu1748=) c.4545G>A (p.Glu1515=) c.5292G>A (p.Glu1764=) | dbSNP |
16 | g.3729750T>A | CA394557283 | CREBBP | c.5297A>T (p.Glu1766Val) c.5183A>T (p.Glu1728Val) c.5252A>T (p.Glu1751Val) c.4880A>T (p.Glu1627Val) c.5036A>T (p.Glu1679Val) c.5243A>T (p.Glu1748Val) c.4544A>T (p.Glu1515Val) c.5291A>T (p.Glu1764Val) | dbSNP |
16 | g.3729750T>C | CA394557287 | CREBBP | c.5297A>G (p.Glu1766Gly) c.5183A>G (p.Glu1728Gly) c.5252A>G (p.Glu1751Gly) c.4880A>G (p.Glu1627Gly) c.5036A>G (p.Glu1679Gly) c.5243A>G (p.Glu1748Gly) c.4544A>G (p.Glu1515Gly) c.5291A>G (p.Glu1764Gly) | dbSNP |
16 | g.3729750T>G | CA394557285 | CREBBP | c.5297A>C (p.Glu1766Ala) c.5183A>C (p.Glu1728Ala) c.5252A>C (p.Glu1751Ala) c.4880A>C (p.Glu1627Ala) c.5036A>C (p.Glu1679Ala) c.5243A>C (p.Glu1748Ala) c.4544A>C (p.Glu1515Ala) c.5291A>C (p.Glu1764Ala) | |
16 | g.3729750_3729751insGTGGG | CA2573152063 | CREBBP | c.5296_5297insCCCAC (p.Glu1766AlafsTer7) c.5182_5183insCCCAC (p.Glu1728AlafsTer7) c.5251_5252insCCCAC (p.Glu1751AlafsTer7) c.4879_4880insCCCAC (p.Glu1627AlafsTer7) c.5035_5036insCCCAC (p.Glu1679AlafsTer7) c.5242_5243insCCCAC (p.Glu1748AlafsTer7) c.4543_4544insCCCAC (p.Glu1515AlafsTer7) c.5290_5291insCCCAC (p.Glu1764AlafsTer7) | ClinVar dbSNP |
16 | g.3729751C>A | CA394557289 | CREBBP | c.5296G>T (p.Glu1766Ter) c.5182G>T (p.Glu1728Ter) c.5251G>T (p.Glu1751Ter) c.4879G>T (p.Glu1627Ter) c.5035G>T (p.Glu1679Ter) c.5242G>T (p.Glu1748Ter) c.4543G>T (p.Glu1515Ter) c.5290G>T (p.Glu1764Ter) | dbSNP |
16 | g.3729751C>G | CA394557290 | CREBBP | c.5296G>C (p.Glu1766Gln) c.5182G>C (p.Glu1728Gln) c.5251G>C (p.Glu1751Gln) c.4879G>C (p.Glu1627Gln) c.5035G>C (p.Glu1679Gln) c.5242G>C (p.Glu1748Gln) c.4543G>C (p.Glu1515Gln) c.5290G>C (p.Glu1764Gln) | dbSNP |
16 | g.3729751C>T | CA394557292 | CREBBP | c.5296G>A (p.Glu1766Lys) c.5182G>A (p.Glu1728Lys) c.5251G>A (p.Glu1751Lys) c.4879G>A (p.Glu1627Lys) c.5035G>A (p.Glu1679Lys) c.5242G>A (p.Glu1748Lys) c.4543G>A (p.Glu1515Lys) c.5290G>A (p.Glu1764Lys) | dbSNP |
16 | g.3729752C>A | CA394557294 | CREBBP | c.5295G>T (p.Gln1765His) c.5181G>T (p.Gln1727His) c.5250G>T (p.Gln1750His) c.4878G>T (p.Gln1626His) c.5034G>T (p.Gln1678His) c.5241G>T (p.Gln1747His) c.4542G>T (p.Gln1514His) c.5289G>T (p.Gln1763His) | dbSNP |
16 | g.3729752C>G | CA394557296 | CREBBP | c.5295G>C (p.Gln1765His) c.5181G>C (p.Gln1727His) c.5250G>C (p.Gln1750His) c.4878G>C (p.Gln1626His) c.5034G>C (p.Gln1678His) c.5241G>C (p.Gln1747His) c.4542G>C (p.Gln1514His) c.5289G>C (p.Gln1763His) | dbSNP |
16 | g.3729752C>T | CA493394238 | CREBBP | c.5295G>A (p.Gln1765=) c.5181G>A (p.Gln1727=) c.5250G>A (p.Gln1750=) c.4878G>A (p.Gln1626=) c.5034G>A (p.Gln1678=) c.5241G>A (p.Gln1747=) c.4542G>A (p.Gln1514=) c.5289G>A (p.Gln1763=) | dbSNP |
16 | g.3729753T>A | CA394557302 | CREBBP | c.5294A>T (p.Gln1765Leu) c.5180A>T (p.Gln1727Leu) c.5249A>T (p.Gln1750Leu) c.4877A>T (p.Gln1626Leu) c.5033A>T (p.Gln1678Leu) c.5240A>T (p.Gln1747Leu) c.4541A>T (p.Gln1514Leu) c.5288A>T (p.Gln1763Leu) | COSMIC |
16 | g.3729753T>C | CA394557300 | CREBBP | c.5294A>G (p.Gln1765Arg) c.5180A>G (p.Gln1727Arg) c.5249A>G (p.Gln1750Arg) c.4877A>G (p.Gln1626Arg) c.5033A>G (p.Gln1678Arg) c.5240A>G (p.Gln1747Arg) c.4541A>G (p.Gln1514Arg) c.5288A>G (p.Gln1763Arg) | |
16 | g.3729753T>G | CA394557298 | CREBBP | c.5294A>C (p.Gln1765Pro) c.5180A>C (p.Gln1727Pro) c.5249A>C (p.Gln1750Pro) c.4877A>C (p.Gln1626Pro) c.5033A>C (p.Gln1678Pro) c.5240A>C (p.Gln1747Pro) c.4541A>C (p.Gln1514Pro) c.5288A>C (p.Gln1763Pro) | |
16 | g.3729754G>A | CA394557304 | CREBBP | c.5293C>T (p.Gln1765Ter) c.5179C>T (p.Gln1727Ter) c.5248C>T (p.Gln1750Ter) c.4876C>T (p.Gln1626Ter) c.5032C>T (p.Gln1678Ter) c.5239C>T (p.Gln1747Ter) c.4540C>T (p.Gln1514Ter) c.5287C>T (p.Gln1763Ter) | COSMIC |
16 | g.3729754G>C | CA394557306 | CREBBP | c.5293C>G (p.Gln1765Glu) c.5179C>G (p.Gln1727Glu) c.5248C>G (p.Gln1750Glu) c.4876C>G (p.Gln1626Glu) c.5032C>G (p.Gln1678Glu) c.5239C>G (p.Gln1747Glu) c.4540C>G (p.Gln1514Glu) c.5287C>G (p.Gln1763Glu) | |
16 | g.3729754G>T | CA394557308 | CREBBP | c.5293C>A (p.Gln1765Lys) c.5179C>A (p.Gln1727Lys) c.5248C>A (p.Gln1750Lys) c.4876C>A (p.Gln1626Lys) c.5032C>A (p.Gln1678Lys) c.5239C>A (p.Gln1747Lys) c.4540C>A (p.Gln1514Lys) c.5287C>A (p.Gln1763Lys) | gnomAD v4 |
16 | g.3729758del | CA2631398909 | CREBBP | c.5293del (p.Gln1765ArgfsTer6) c.5179del (p.Gln1727ArgfsTer6) c.5248del (p.Gln1750ArgfsTer6) c.4876del (p.Gln1626ArgfsTer6) c.5032del (p.Gln1678ArgfsTer6) c.5239del (p.Gln1747ArgfsTer6) c.4540del (p.Gln1514ArgfsTer6) c.5287del (p.Gln1763ArgfsTer6) | gnomAD v4 |
16 | g.3729755G>A | CA493394244 | CREBBP | c.5292C>T (p.Pro1764=) c.5178C>T (p.Pro1726=) c.5247C>T (p.Pro1749=) c.4875C>T (p.Pro1625=) c.5031C>T (p.Pro1677=) c.5238C>T (p.Pro1746=) c.4539C>T (p.Pro1513=) c.5286C>T (p.Pro1762=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729755G>C | CA493394243 | CREBBP | c.5292C>G (p.Pro1764=) c.5178C>G (p.Pro1726=) c.5247C>G (p.Pro1749=) c.4875C>G (p.Pro1625=) c.5031C>G (p.Pro1677=) c.5238C>G (p.Pro1746=) c.4539C>G (p.Pro1513=) c.5286C>G (p.Pro1762=) | dbSNP |
16 | g.3729755G= | CA2202916515 | CREBBP | c.5292C= (p.Pro1764=) c.5178C= (p.Pro1726=) c.5247C= (p.Pro1749=) c.4875C= (p.Pro1625=) c.5031C= (p.Pro1677=) c.5238C= (p.Pro1746=) c.4539C= (p.Pro1513=) c.5286C= (p.Pro1762=) | |
16 | g.3729755G>T | CA493394241 | CREBBP | c.5292C>A (p.Pro1764=) c.5178C>A (p.Pro1726=) c.5247C>A (p.Pro1749=) c.4875C>A (p.Pro1625=) c.5031C>A (p.Pro1677=) c.5238C>A (p.Pro1746=) c.4539C>A (p.Pro1513=) c.5286C>A (p.Pro1762=) | dbSNP gnomAD v4 |
16 | g.3729756G>A | CA394557310 | CREBBP | c.5291C>T (p.Pro1764Leu) c.5177C>T (p.Pro1726Leu) c.5246C>T (p.Pro1749Leu) c.4874C>T (p.Pro1625Leu) c.5030C>T (p.Pro1677Leu) c.5237C>T (p.Pro1746Leu) c.4538C>T (p.Pro1513Leu) c.5285C>T (p.Pro1762Leu) | dbSNP |
16 | g.3729756G>C | CA394557311 | CREBBP | c.5291C>G (p.Pro1764Arg) c.5177C>G (p.Pro1726Arg) c.5246C>G (p.Pro1749Arg) c.4874C>G (p.Pro1625Arg) c.5030C>G (p.Pro1677Arg) c.5237C>G (p.Pro1746Arg) c.4538C>G (p.Pro1513Arg) c.5285C>G (p.Pro1762Arg) | dbSNP |
16 | g.3729756G>T | CA394557312 | CREBBP | c.5291C>A (p.Pro1764His) c.5177C>A (p.Pro1726His) c.5246C>A (p.Pro1749His) c.4874C>A (p.Pro1625His) c.5030C>A (p.Pro1677His) c.5237C>A (p.Pro1746His) c.4538C>A (p.Pro1513His) c.5285C>A (p.Pro1762His) | dbSNP |
16 | g.3729757G>A | CA394557318 | CREBBP | c.5290C>T (p.Pro1764Ser) c.5176C>T (p.Pro1726Ser) c.5245C>T (p.Pro1749Ser) c.4873C>T (p.Pro1625Ser) c.5029C>T (p.Pro1677Ser) c.5236C>T (p.Pro1746Ser) c.4537C>T (p.Pro1513Ser) c.5284C>T (p.Pro1762Ser) | |
16 | g.3729757G>C | CA394557315 | CREBBP | c.5290C>G (p.Pro1764Ala) c.5176C>G (p.Pro1726Ala) c.5245C>G (p.Pro1749Ala) c.4873C>G (p.Pro1625Ala) c.5029C>G (p.Pro1677Ala) c.5236C>G (p.Pro1746Ala) c.4537C>G (p.Pro1513Ala) c.5284C>G (p.Pro1762Ala) | dbSNP |
16 | g.3729757G>T | CA394557317 | CREBBP | c.5290C>A (p.Pro1764Thr) c.5176C>A (p.Pro1726Thr) c.5245C>A (p.Pro1749Thr) c.4873C>A (p.Pro1625Thr) c.5029C>A (p.Pro1677Thr) c.5236C>A (p.Pro1746Thr) c.4537C>A (p.Pro1513Thr) c.5284C>A (p.Pro1762Thr) | dbSNP gnomAD v4 |
16 | g.3729758G>A | CA493394245 | CREBBP | c.5289C>T (p.Ser1763=) c.5175C>T (p.Ser1725=) c.5244C>T (p.Ser1748=) c.4872C>T (p.Ser1624=) c.5028C>T (p.Ser1676=) c.5235C>T (p.Ser1745=) c.4536C>T (p.Ser1512=) c.5283C>T (p.Ser1761=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729758G>C | CA394557321 | CREBBP | c.5289C>G (p.Ser1763Arg) c.5175C>G (p.Ser1725Arg) c.5244C>G (p.Ser1748Arg) c.4872C>G (p.Ser1624Arg) c.5028C>G (p.Ser1676Arg) c.5235C>G (p.Ser1745Arg) c.4536C>G (p.Ser1512Arg) c.5283C>G (p.Ser1761Arg) | dbSNP gnomAD v4 |
16 | g.3729758G= | CA2202916516 | CREBBP | c.5289C= (p.Ser1763=) c.5175C= (p.Ser1725=) c.5244C= (p.Ser1748=) c.4872C= (p.Ser1624=) c.5028C= (p.Ser1676=) c.5235C= (p.Ser1745=) c.4536C= (p.Ser1512=) c.5283C= (p.Ser1761=) | |
16 | g.3729758G>T | CA394557322 | CREBBP | c.5289C>A (p.Ser1763Arg) c.5175C>A (p.Ser1725Arg) c.5244C>A (p.Ser1748Arg) c.4872C>A (p.Ser1624Arg) c.5028C>A (p.Ser1676Arg) c.5235C>A (p.Ser1745Arg) c.4536C>A (p.Ser1512Arg) c.5283C>A (p.Ser1761Arg) | gnomAD v4 |
16 | g.3729759C>A | CA394557323 | CREBBP | c.5288G>T (p.Ser1763Ile) c.5174G>T (p.Ser1725Ile) c.5243G>T (p.Ser1748Ile) c.4871G>T (p.Ser1624Ile) c.5027G>T (p.Ser1676Ile) c.5234G>T (p.Ser1745Ile) c.4535G>T (p.Ser1512Ile) c.5282G>T (p.Ser1761Ile) | dbSNP gnomAD v4 |
16 | g.3729759C= | CA2202916517 | CREBBP | c.5288G= (p.Ser1763=) c.5174G= (p.Ser1725=) c.5243G= (p.Ser1748=) c.4871G= (p.Ser1624=) c.5027G= (p.Ser1676=) c.5234G= (p.Ser1745=) c.4535G= (p.Ser1512=) c.5282G= (p.Ser1761=) | |
16 | g.3729759C>G | CA394557325 | CREBBP | c.5288G>C (p.Ser1763Thr) c.5174G>C (p.Ser1725Thr) c.5243G>C (p.Ser1748Thr) c.4871G>C (p.Ser1624Thr) c.5027G>C (p.Ser1676Thr) c.5234G>C (p.Ser1745Thr) c.4535G>C (p.Ser1512Thr) c.5282G>C (p.Ser1761Thr) | dbSNP gnomAD v4 |
16 | g.3729759C>T | CA7869296 | CREBBP | c.5288G>A (p.Ser1763Asn) c.5174G>A (p.Ser1725Asn) c.5243G>A (p.Ser1748Asn) c.4871G>A (p.Ser1624Asn) c.5027G>A (p.Ser1676Asn) c.5234G>A (p.Ser1745Asn) c.4535G>A (p.Ser1512Asn) c.5282G>A (p.Ser1761Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729760T>A | CA394557328 | CREBBP | c.5287A>T (p.Ser1763Cys) c.5173A>T (p.Ser1725Cys) c.5242A>T (p.Ser1748Cys) c.4870A>T (p.Ser1624Cys) c.5026A>T (p.Ser1676Cys) c.5233A>T (p.Ser1745Cys) c.4534A>T (p.Ser1512Cys) c.5281A>T (p.Ser1761Cys) | |
16 | g.3729760T>C | CA394557330 | CREBBP | c.5287A>G (p.Ser1763Gly) c.5173A>G (p.Ser1725Gly) c.5242A>G (p.Ser1748Gly) c.4870A>G (p.Ser1624Gly) c.5026A>G (p.Ser1676Gly) c.5233A>G (p.Ser1745Gly) c.4534A>G (p.Ser1512Gly) c.5281A>G (p.Ser1761Gly) | |
16 | g.3729760T>G | CA394557332 | CREBBP | c.5287A>C (p.Ser1763Arg) c.5173A>C (p.Ser1725Arg) c.5242A>C (p.Ser1748Arg) c.4870A>C (p.Ser1624Arg) c.5026A>C (p.Ser1676Arg) c.5233A>C (p.Ser1745Arg) c.4534A>C (p.Ser1512Arg) c.5281A>C (p.Ser1761Arg) | |
16 | g.3729761C>A | CA394557334 | CREBBP | c.5286G>T (p.Lys1762Asn) c.5172G>T (p.Lys1724Asn) c.5241G>T (p.Lys1747Asn) c.4869G>T (p.Lys1623Asn) c.5025G>T (p.Lys1675Asn) c.5232G>T (p.Lys1744Asn) c.4533G>T (p.Lys1511Asn) c.5280G>T (p.Lys1760Asn) | |
16 | g.3729761C= | CA2202916518 | CREBBP | c.5286G= (p.Lys1762=) c.5172G= (p.Lys1724=) c.5241G= (p.Lys1747=) c.4869G= (p.Lys1623=) c.5025G= (p.Lys1675=) c.5232G= (p.Lys1744=) c.4533G= (p.Lys1511=) c.5280G= (p.Lys1760=) | |
16 | g.3729761C>G | CA394557335 | CREBBP | c.5286G>C (p.Lys1762Asn) c.5172G>C (p.Lys1724Asn) c.5241G>C (p.Lys1747Asn) c.4869G>C (p.Lys1623Asn) c.5025G>C (p.Lys1675Asn) c.5232G>C (p.Lys1744Asn) c.4533G>C (p.Lys1511Asn) c.5280G>C (p.Lys1760Asn) | dbSNP |
16 | g.3729761C>T | CA493394248 | CREBBP | c.5286G>A (p.Lys1762=) c.5172G>A (p.Lys1724=) c.5241G>A (p.Lys1747=) c.4869G>A (p.Lys1623=) c.5025G>A (p.Lys1675=) c.5232G>A (p.Lys1744=) c.4533G>A (p.Lys1511=) c.5280G>A (p.Lys1760=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729762T>A | CA394557338 | CREBBP | c.5285A>T (p.Lys1762Met) c.5171A>T (p.Lys1724Met) c.5240A>T (p.Lys1747Met) c.4868A>T (p.Lys1623Met) c.5024A>T (p.Lys1675Met) c.5231A>T (p.Lys1744Met) c.4532A>T (p.Lys1511Met) c.5279A>T (p.Lys1760Met) | dbSNP gnomAD v4 |
16 | g.3729762T>C | CA394557340 | CREBBP | c.5285A>G (p.Lys1762Arg) c.5171A>G (p.Lys1724Arg) c.5240A>G (p.Lys1747Arg) c.4868A>G (p.Lys1623Arg) c.5024A>G (p.Lys1675Arg) c.5231A>G (p.Lys1744Arg) c.4532A>G (p.Lys1511Arg) c.5279A>G (p.Lys1760Arg) | dbSNP |
16 | g.3729762T>G | CA394557342 | CREBBP | c.5285A>C (p.Lys1762Thr) c.5171A>C (p.Lys1724Thr) c.5240A>C (p.Lys1747Thr) c.4868A>C (p.Lys1623Thr) c.5024A>C (p.Lys1675Thr) c.5231A>C (p.Lys1744Thr) c.4532A>C (p.Lys1511Thr) c.5279A>C (p.Lys1760Thr) | dbSNP |
16 | g.3729763T>A | CA394557344 | CREBBP | c.5284A>T (p.Lys1762Ter) c.5170A>T (p.Lys1724Ter) c.5239A>T (p.Lys1747Ter) c.4867A>T (p.Lys1623Ter) c.5023A>T (p.Lys1675Ter) c.5230A>T (p.Lys1744Ter) c.4531A>T (p.Lys1511Ter) c.5278A>T (p.Lys1760Ter) | dbSNP COSMIC |
16 | g.3729763T>C | CA394557347 | CREBBP | c.5284A>G (p.Lys1762Glu) c.5170A>G (p.Lys1724Glu) c.5239A>G (p.Lys1747Glu) c.4867A>G (p.Lys1623Glu) c.5023A>G (p.Lys1675Glu) c.5230A>G (p.Lys1744Glu) c.4531A>G (p.Lys1511Glu) c.5278A>G (p.Lys1760Glu) | dbSNP gnomAD v4 |
16 | g.3729763T>G | CA394557345 | CREBBP | c.5284A>C (p.Lys1762Gln) c.5170A>C (p.Lys1724Gln) c.5239A>C (p.Lys1747Gln) c.4867A>C (p.Lys1623Gln) c.5023A>C (p.Lys1675Gln) c.5230A>C (p.Lys1744Gln) c.4531A>C (p.Lys1511Gln) c.5278A>C (p.Lys1760Gln) | |
16 | g.3729764T>A | CA493394250 | CREBBP | c.5283A>T (p.Ser1761=) c.5169A>T (p.Ser1723=) c.5238A>T (p.Ser1746=) c.4866A>T (p.Ser1622=) c.5022A>T (p.Ser1674=) c.5229A>T (p.Ser1743=) c.4530A>T (p.Ser1510=) c.5277A>T (p.Ser1759=) | |
16 | g.3729764T>C | CA276972295 | CREBBP | c.5283A>G (p.Ser1761=) c.5169A>G (p.Ser1723=) c.5238A>G (p.Ser1746=) c.4866A>G (p.Ser1622=) c.5022A>G (p.Ser1674=) c.5229A>G (p.Ser1743=) c.4530A>G (p.Ser1510=) c.5277A>G (p.Ser1759=) | dbSNP gnomAD v4 |
16 | g.3729764T>G | CA493394252 | CREBBP | c.5283A>C (p.Ser1761=) c.5169A>C (p.Ser1723=) c.5238A>C (p.Ser1746=) c.4866A>C (p.Ser1622=) c.5022A>C (p.Ser1674=) c.5229A>C (p.Ser1743=) c.4530A>C (p.Ser1510=) c.5277A>C (p.Ser1759=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729764T= | CA2202916519 | CREBBP | c.5283A= (p.Ser1761=) c.5169A= (p.Ser1723=) c.5238A= (p.Ser1746=) c.4866A= (p.Ser1622=) c.5022A= (p.Ser1674=) c.5229A= (p.Ser1743=) c.4530A= (p.Ser1510=) c.5277A= (p.Ser1759=) | |
16 | g.3729766_3729785del | CA645575162 | CREBBP | c.5264_5283del (p.Ser1755LysfsTer?) c.5150_5169del (p.Ser1717LysfsTer?) c.5219_5238del (p.Ser1740LysfsTer?) c.4847_4866del (p.Ser1616LysfsTer?) c.5003_5022del (p.Ser1668LysfsTer?) c.5210_5229del (p.Ser1737LysfsTer?) c.4511_4530del (p.Ser1504LysfsTer?) c.5258_5277del (p.Ser1753LysfsTer?) | COSMIC |
16 | g.3729765G>A | CA394557349 | CREBBP | c.5282C>T (p.Ser1761Leu) c.5168C>T (p.Ser1723Leu) c.5237C>T (p.Ser1746Leu) c.4865C>T (p.Ser1622Leu) c.5021C>T (p.Ser1674Leu) c.5228C>T (p.Ser1743Leu) c.4529C>T (p.Ser1510Leu) c.5276C>T (p.Ser1759Leu) | dbSNP |
16 | g.3729765G>C | CA394557351 | CREBBP | c.5282C>G (p.Ser1761Ter) c.5168C>G (p.Ser1723Ter) c.5237C>G (p.Ser1746Ter) c.4865C>G (p.Ser1622Ter) c.5021C>G (p.Ser1674Ter) c.5228C>G (p.Ser1743Ter) c.4529C>G (p.Ser1510Ter) c.5276C>G (p.Ser1759Ter) | dbSNP COSMIC |
16 | g.3729765G>T | CA394557353 | CREBBP | c.5282C>A (p.Ser1761Ter) c.5168C>A (p.Ser1723Ter) c.5237C>A (p.Ser1746Ter) c.4865C>A (p.Ser1622Ter) c.5021C>A (p.Ser1674Ter) c.5228C>A (p.Ser1743Ter) c.4529C>A (p.Ser1510Ter) c.5276C>A (p.Ser1759Ter) | dbSNP gnomAD v4 COSMIC |
16 | g.3729766A>C | CA394557354 | CREBBP | c.5281T>G (p.Ser1761Ala) c.5167T>G (p.Ser1723Ala) c.5236T>G (p.Ser1746Ala) c.4864T>G (p.Ser1622Ala) c.5020T>G (p.Ser1674Ala) c.5227T>G (p.Ser1743Ala) c.4528T>G (p.Ser1510Ala) c.5275T>G (p.Ser1759Ala) | dbSNP |
16 | g.3729766A>G | CA394557356 | CREBBP | c.5281T>C (p.Ser1761Pro) c.5167T>C (p.Ser1723Pro) c.5236T>C (p.Ser1746Pro) c.4864T>C (p.Ser1622Pro) c.5020T>C (p.Ser1674Pro) c.5227T>C (p.Ser1743Pro) c.4528T>C (p.Ser1510Pro) c.5275T>C (p.Ser1759Pro) | dbSNP gnomAD v4 |
16 | g.3729766A>T | CA394557357 | CREBBP | c.5281T>A (p.Ser1761Thr) c.5167T>A (p.Ser1723Thr) c.5236T>A (p.Ser1746Thr) c.4864T>A (p.Ser1622Thr) c.5020T>A (p.Ser1674Thr) c.5227T>A (p.Ser1743Thr) c.4528T>A (p.Ser1510Thr) c.5275T>A (p.Ser1759Thr) | dbSNP |
16 | g.3729767C>A | CA394557359 | CREBBP | c.5280G>T (p.Gln1760His) c.5166G>T (p.Gln1722His) c.5235G>T (p.Gln1745His) c.4863G>T (p.Gln1621His) c.5019G>T (p.Gln1673His) c.5226G>T (p.Gln1742His) c.4527G>T (p.Gln1509His) c.5274G>T (p.Gln1758His) | dbSNP |
16 | g.3729767C= | CA2202916520 | CREBBP | c.5280G= (p.Gln1760=) c.5166G= (p.Gln1722=) c.5235G= (p.Gln1745=) c.4863G= (p.Gln1621=) c.5019G= (p.Gln1673=) c.5226G= (p.Gln1742=) c.4527G= (p.Gln1509=) c.5274G= (p.Gln1758=) | |
16 | g.3729767C>G | CA394557360 | CREBBP | c.5280G>C (p.Gln1760His) c.5166G>C (p.Gln1722His) c.5235G>C (p.Gln1745His) c.4863G>C (p.Gln1621His) c.5019G>C (p.Gln1673His) c.5226G>C (p.Gln1742His) c.4527G>C (p.Gln1509His) c.5274G>C (p.Gln1758His) | dbSNP |
16 | g.3729767C>T | CA493394253 | CREBBP | c.5280G>A (p.Gln1760=) c.5166G>A (p.Gln1722=) c.5235G>A (p.Gln1745=) c.4863G>A (p.Gln1621=) c.5019G>A (p.Gln1673=) c.5226G>A (p.Gln1742=) c.4527G>A (p.Gln1509=) c.5274G>A (p.Gln1758=) | dbSNP gnomAD v2 |
16 | g.3729768T>A | CA394557362 | CREBBP | c.5279A>T (p.Gln1760Leu) c.5165A>T (p.Gln1722Leu) c.5234A>T (p.Gln1745Leu) c.4862A>T (p.Gln1621Leu) c.5018A>T (p.Gln1673Leu) c.5225A>T (p.Gln1742Leu) c.4526A>T (p.Gln1509Leu) c.5273A>T (p.Gln1758Leu) | dbSNP |
16 | g.3729768T>C | CA394557364 | CREBBP | c.5279A>G (p.Gln1760Arg) c.5165A>G (p.Gln1722Arg) c.5234A>G (p.Gln1745Arg) c.4862A>G (p.Gln1621Arg) c.5018A>G (p.Gln1673Arg) c.5225A>G (p.Gln1742Arg) c.4526A>G (p.Gln1509Arg) c.5273A>G (p.Gln1758Arg) | dbSNP gnomAD v4 |
16 | g.3729768T>G | CA394557366 | CREBBP | c.5279A>C (p.Gln1760Pro) c.5165A>C (p.Gln1722Pro) c.5234A>C (p.Gln1745Pro) c.4862A>C (p.Gln1621Pro) c.5018A>C (p.Gln1673Pro) c.5225A>C (p.Gln1742Pro) c.4526A>C (p.Gln1509Pro) c.5273A>C (p.Gln1758Pro) | |
16 | g.3729769G>A | CA394557370 | CREBBP | c.5278C>T (p.Gln1760Ter) c.5164C>T (p.Gln1722Ter) c.5233C>T (p.Gln1745Ter) c.4861C>T (p.Gln1621Ter) c.5017C>T (p.Gln1673Ter) c.5224C>T (p.Gln1742Ter) c.4525C>T (p.Gln1509Ter) c.5272C>T (p.Gln1758Ter) | dbSNP COSMIC |
16 | g.3729769G>C | CA394557369 | CREBBP | c.5278C>G (p.Gln1760Glu) c.5164C>G (p.Gln1722Glu) c.5233C>G (p.Gln1745Glu) c.4861C>G (p.Gln1621Glu) c.5017C>G (p.Gln1673Glu) c.5224C>G (p.Gln1742Glu) c.4525C>G (p.Gln1509Glu) c.5272C>G (p.Gln1758Glu) | dbSNP |
16 | g.3729769G>T | CA394557368 | CREBBP | c.5278C>A (p.Gln1760Lys) c.5164C>A (p.Gln1722Lys) c.5233C>A (p.Gln1745Lys) c.4861C>A (p.Gln1621Lys) c.5017C>A (p.Gln1673Lys) c.5224C>A (p.Gln1742Lys) c.4525C>A (p.Gln1509Lys) c.5272C>A (p.Gln1758Lys) | gnomAD v4 |
16 | g.3729770T>A | CA493394256 | CREBBP | c.5277A>T (p.Pro1759=) c.5163A>T (p.Pro1721=) c.5232A>T (p.Pro1744=) c.4860A>T (p.Pro1620=) c.5016A>T (p.Pro1672=) c.5223A>T (p.Pro1741=) c.4524A>T (p.Pro1508=) c.5271A>T (p.Pro1757=) | dbSNP COSMIC |
16 | g.3729770T>C | CA7869297 | CREBBP | c.5277A>G (p.Pro1759=) c.5163A>G (p.Pro1721=) c.5232A>G (p.Pro1744=) c.4860A>G (p.Pro1620=) c.5016A>G (p.Pro1672=) c.5223A>G (p.Pro1741=) c.4524A>G (p.Pro1508=) c.5271A>G (p.Pro1757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729770T>G | CA493394257 | CREBBP | c.5277A>C (p.Pro1759=) c.5163A>C (p.Pro1721=) c.5232A>C (p.Pro1744=) c.4860A>C (p.Pro1620=) c.5016A>C (p.Pro1672=) c.5223A>C (p.Pro1741=) c.4524A>C (p.Pro1508=) c.5271A>C (p.Pro1757=) | dbSNP |
16 | g.3729770T= | CA2202916521 | CREBBP | c.5277A= (p.Pro1759=) c.5163A= (p.Pro1721=) c.5232A= (p.Pro1744=) c.4860A= (p.Pro1620=) c.5016A= (p.Pro1672=) c.5223A= (p.Pro1741=) c.4524A= (p.Pro1508=) c.5271A= (p.Pro1757=) | |
16 | g.3729771G>A | CA394557374 | CREBBP | c.5276C>T (p.Pro1759Leu) c.5162C>T (p.Pro1721Leu) c.5231C>T (p.Pro1744Leu) c.4859C>T (p.Pro1620Leu) c.5015C>T (p.Pro1672Leu) c.5222C>T (p.Pro1741Leu) c.4523C>T (p.Pro1508Leu) c.5270C>T (p.Pro1757Leu) | dbSNP |
16 | g.3729771G>C | CA394557375 | CREBBP | c.5276C>G (p.Pro1759Arg) c.5162C>G (p.Pro1721Arg) c.5231C>G (p.Pro1744Arg) c.4859C>G (p.Pro1620Arg) c.5015C>G (p.Pro1672Arg) c.5222C>G (p.Pro1741Arg) c.4523C>G (p.Pro1508Arg) c.5270C>G (p.Pro1757Arg) | |
16 | g.3729771G>T | CA394557377 | CREBBP | c.5276C>A (p.Pro1759Gln) c.5162C>A (p.Pro1721Gln) c.5231C>A (p.Pro1744Gln) c.4859C>A (p.Pro1620Gln) c.5015C>A (p.Pro1672Gln) c.5222C>A (p.Pro1741Gln) c.4523C>A (p.Pro1508Gln) c.5270C>A (p.Pro1757Gln) | |
16 | g.3729772G>A | CA394557380 | CREBBP | c.5275C>T (p.Pro1759Ser) c.5161C>T (p.Pro1721Ser) c.5230C>T (p.Pro1744Ser) c.4858C>T (p.Pro1620Ser) c.5014C>T (p.Pro1672Ser) c.5221C>T (p.Pro1741Ser) c.4522C>T (p.Pro1508Ser) c.5269C>T (p.Pro1757Ser) | dbSNP gnomAD v4 |
16 | g.3729772G>C | CA394557383 | CREBBP | c.5275C>G (p.Pro1759Ala) c.5161C>G (p.Pro1721Ala) c.5230C>G (p.Pro1744Ala) c.4858C>G (p.Pro1620Ala) c.5014C>G (p.Pro1672Ala) c.5221C>G (p.Pro1741Ala) c.4522C>G (p.Pro1508Ala) c.5269C>G (p.Pro1757Ala) | dbSNP gnomAD v4 |
16 | g.3729772G>T | CA394557384 | CREBBP | c.5275C>A (p.Pro1759Thr) c.5161C>A (p.Pro1721Thr) c.5230C>A (p.Pro1744Thr) c.4858C>A (p.Pro1620Thr) c.5014C>A (p.Pro1672Thr) c.5221C>A (p.Pro1741Thr) c.4522C>A (p.Pro1508Thr) c.5269C>A (p.Pro1757Thr) | dbSNP gnomAD v4 COSMIC |
16 | g.3729773C>A | CA394557385 | CREBBP | c.5274G>T (p.Glu1758Asp) c.5160G>T (p.Glu1720Asp) c.5229G>T (p.Glu1743Asp) c.4857G>T (p.Glu1619Asp) c.5013G>T (p.Glu1671Asp) c.5220G>T (p.Glu1740Asp) c.4521G>T (p.Glu1507Asp) c.5268G>T (p.Glu1756Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729773C= | CA2202916522 | CREBBP | c.5274G= (p.Glu1758=) c.5160G= (p.Glu1720=) c.5229G= (p.Glu1743=) c.4857G= (p.Glu1619=) c.5013G= (p.Glu1671=) c.5220G= (p.Glu1740=) c.4521G= (p.Glu1507=) c.5268G= (p.Glu1756=) | |
16 | g.3729773C>G | CA394557386 | CREBBP | c.5274G>C (p.Glu1758Asp) c.5160G>C (p.Glu1720Asp) c.5229G>C (p.Glu1743Asp) c.4857G>C (p.Glu1619Asp) c.5013G>C (p.Glu1671Asp) c.5220G>C (p.Glu1740Asp) c.4521G>C (p.Glu1507Asp) c.5268G>C (p.Glu1756Asp) | dbSNP |
16 | g.3729773C>T | CA493394258 | CREBBP | c.5274G>A (p.Glu1758=) c.5160G>A (p.Glu1720=) c.5229G>A (p.Glu1743=) c.4857G>A (p.Glu1619=) c.5013G>A (p.Glu1671=) c.5220G>A (p.Glu1740=) c.4521G>A (p.Glu1507=) c.5268G>A (p.Glu1756=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729774T>A | CA394557388 | CREBBP | c.5273A>T (p.Glu1758Val) c.5159A>T (p.Glu1720Val) c.5228A>T (p.Glu1743Val) c.4856A>T (p.Glu1619Val) c.5012A>T (p.Glu1671Val) c.5219A>T (p.Glu1740Val) c.4520A>T (p.Glu1507Val) c.5267A>T (p.Glu1756Val) | dbSNP |
16 | g.3729774T>C | CA394557393 | CREBBP | c.5273A>G (p.Glu1758Gly) c.5159A>G (p.Glu1720Gly) c.5228A>G (p.Glu1743Gly) c.4856A>G (p.Glu1619Gly) c.5012A>G (p.Glu1671Gly) c.5219A>G (p.Glu1740Gly) c.4520A>G (p.Glu1507Gly) c.5267A>G (p.Glu1756Gly) | dbSNP |
16 | g.3729774T>G | CA394557395 | CREBBP | c.5273A>C (p.Glu1758Ala) c.5159A>C (p.Glu1720Ala) c.5228A>C (p.Glu1743Ala) c.4856A>C (p.Glu1619Ala) c.5012A>C (p.Glu1671Ala) c.5219A>C (p.Glu1740Ala) c.4520A>C (p.Glu1507Ala) c.5267A>C (p.Glu1756Ala) | dbSNP |
16 | g.3729775C>A | CA394557401 | CREBBP | c.5272G>T (p.Glu1758Ter) c.5158G>T (p.Glu1720Ter) c.5227G>T (p.Glu1743Ter) c.4855G>T (p.Glu1619Ter) c.5011G>T (p.Glu1671Ter) c.5218G>T (p.Glu1740Ter) c.4519G>T (p.Glu1507Ter) c.5266G>T (p.Glu1756Ter) | dbSNP gnomAD v4 |
16 | g.3729775C= | CA2202916523 | CREBBP | c.5272G= (p.Glu1758=) c.5158G= (p.Glu1720=) c.5227G= (p.Glu1743=) c.4855G= (p.Glu1619=) c.5011G= (p.Glu1671=) c.5218G= (p.Glu1740=) c.4519G= (p.Glu1507=) c.5266G= (p.Glu1756=) | |
16 | g.3729775C>G | CA394557397 | CREBBP | c.5272G>C (p.Glu1758Gln) c.5158G>C (p.Glu1720Gln) c.5227G>C (p.Glu1743Gln) c.4855G>C (p.Glu1619Gln) c.5011G>C (p.Glu1671Gln) c.5218G>C (p.Glu1740Gln) c.4519G>C (p.Glu1507Gln) c.5266G>C (p.Glu1756Gln) | dbSNP |
16 | g.3729775C>T | CA394557399 | CREBBP | c.5272G>A (p.Glu1758Lys) c.5158G>A (p.Glu1720Lys) c.5227G>A (p.Glu1743Lys) c.4855G>A (p.Glu1619Lys) c.5011G>A (p.Glu1671Lys) c.5218G>A (p.Glu1740Lys) c.4519G>A (p.Glu1507Lys) c.5266G>A (p.Glu1756Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729776G>A | CA7869299 | CREBBP | c.5271C>T (p.Gly1757=) c.5157C>T (p.Gly1719=) c.5226C>T (p.Gly1742=) c.4854C>T (p.Gly1618=) c.5010C>T (p.Gly1670=) c.5217C>T (p.Gly1739=) c.4518C>T (p.Gly1506=) c.5265C>T (p.Gly1755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729776G>C | CA7869298 | CREBBP | c.5271C>G (p.Gly1757=) c.5157C>G (p.Gly1719=) c.5226C>G (p.Gly1742=) c.4854C>G (p.Gly1618=) c.5010C>G (p.Gly1670=) c.5217C>G (p.Gly1739=) c.4518C>G (p.Gly1506=) c.5265C>G (p.Gly1755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729776G= | CA2202916524 | CREBBP | c.5271C= (p.Gly1757=) c.5157C= (p.Gly1719=) c.5226C= (p.Gly1742=) c.4854C= (p.Gly1618=) c.5010C= (p.Gly1670=) c.5217C= (p.Gly1739=) c.4518C= (p.Gly1506=) c.5265C= (p.Gly1755=) | |
16 | g.3729776G>T | CA493394259 | CREBBP | c.5271C>A (p.Gly1757=) c.5157C>A (p.Gly1719=) c.5226C>A (p.Gly1742=) c.4854C>A (p.Gly1618=) c.5010C>A (p.Gly1670=) c.5217C>A (p.Gly1739=) c.4518C>A (p.Gly1506=) c.5265C>A (p.Gly1755=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729777C>A | CA394557404 | CREBBP | c.5270G>T (p.Gly1757Val) c.5156G>T (p.Gly1719Val) c.5225G>T (p.Gly1742Val) c.4853G>T (p.Gly1618Val) c.5009G>T (p.Gly1670Val) c.5216G>T (p.Gly1739Val) c.4517G>T (p.Gly1506Val) c.5264G>T (p.Gly1755Val) | dbSNP |
16 | g.3729777C>G | CA394557407 | CREBBP | c.5270G>C (p.Gly1757Ala) c.5156G>C (p.Gly1719Ala) c.5225G>C (p.Gly1742Ala) c.4853G>C (p.Gly1618Ala) c.5009G>C (p.Gly1670Ala) c.5216G>C (p.Gly1739Ala) c.4517G>C (p.Gly1506Ala) c.5264G>C (p.Gly1755Ala) | dbSNP |
16 | g.3729777C>T | CA394557406 | CREBBP | c.5270G>A (p.Gly1757Asp) c.5156G>A (p.Gly1719Asp) c.5225G>A (p.Gly1742Asp) c.4853G>A (p.Gly1618Asp) c.5009G>A (p.Gly1670Asp) c.5216G>A (p.Gly1739Asp) c.4517G>A (p.Gly1506Asp) c.5264G>A (p.Gly1755Asp) | dbSNP gnomAD v4 |
16 | g.3729778C>A | CA394557410 | CREBBP | c.5269G>T (p.Gly1757Cys) c.5155G>T (p.Gly1719Cys) c.5224G>T (p.Gly1742Cys) c.4852G>T (p.Gly1618Cys) c.5008G>T (p.Gly1670Cys) c.5215G>T (p.Gly1739Cys) c.4516G>T (p.Gly1506Cys) c.5263G>T (p.Gly1755Cys) | dbSNP COSMIC |
16 | g.3729778C>G | CA394557414 | CREBBP | c.5269G>C (p.Gly1757Arg) c.5155G>C (p.Gly1719Arg) c.5224G>C (p.Gly1742Arg) c.4852G>C (p.Gly1618Arg) c.5008G>C (p.Gly1670Arg) c.5215G>C (p.Gly1739Arg) c.4516G>C (p.Gly1506Arg) c.5263G>C (p.Gly1755Arg) | dbSNP |
16 | g.3729778C>T | CA394557412 | CREBBP | c.5269G>A (p.Gly1757Ser) c.5155G>A (p.Gly1719Ser) c.5224G>A (p.Gly1742Ser) c.4852G>A (p.Gly1618Ser) c.5008G>A (p.Gly1670Ser) c.5215G>A (p.Gly1739Ser) c.4516G>A (p.Gly1506Ser) c.5263G>A (p.Gly1755Ser) | dbSNP gnomAD v4 |
16 | g.3729779C>A | CA394557416 | CREBBP | c.5268G>T (p.Gln1756His) c.5154G>T (p.Gln1718His) c.5223G>T (p.Gln1741His) c.4851G>T (p.Gln1617His) c.5007G>T (p.Gln1669His) c.5214G>T (p.Gln1738His) c.4515G>T (p.Gln1505His) c.5262G>T (p.Gln1754His) | dbSNP |
16 | g.3729779C= | CA2202916526 | CREBBP | c.5268G= (p.Gln1756=) c.5154G= (p.Gln1718=) c.5223G= (p.Gln1741=) c.4851G= (p.Gln1617=) c.5007G= (p.Gln1669=) c.5214G= (p.Gln1738=) c.4515G= (p.Gln1505=) c.5262G= (p.Gln1754=) | |
16 | g.3729779C>G | CA394557418 | CREBBP | c.5268G>C (p.Gln1756His) c.5154G>C (p.Gln1718His) c.5223G>C (p.Gln1741His) c.4851G>C (p.Gln1617His) c.5007G>C (p.Gln1669His) c.5214G>C (p.Gln1738His) c.4515G>C (p.Gln1505His) c.5262G>C (p.Gln1754His) | dbSNP |
16 | g.3729779C>T | CA493394262 | CREBBP | c.5268G>A (p.Gln1756=) c.5154G>A (p.Gln1718=) c.5223G>A (p.Gln1741=) c.4851G>A (p.Gln1617=) c.5007G>A (p.Gln1669=) c.5214G>A (p.Gln1738=) c.4515G>A (p.Gln1505=) c.5262G>A (p.Gln1754=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729779_3729785delinsCTGGCTG | CA2202916525 | CREBBP | c.5262_5268delinsCAGCCAG (p.Ser1754=) c.5148_5154delinsCAGCCAG (p.Ser1716=) c.5217_5223delinsCAGCCAG (p.Ser1739=) c.4845_4851delinsCAGCCAG (p.Ser1615=) c.5001_5007delinsCAGCCAG (p.Ser1667=) c.5208_5214delinsCAGCCAG (p.Ser1736=) c.4509_4515delinsCAGCCAG (p.Ser1503=) c.5256_5262delinsCAGCCAG (p.Ser1752=) | |
16 | g.3729780T>A | CA394557420 | CREBBP | c.5267A>T (p.Gln1756Leu) c.5153A>T (p.Gln1718Leu) c.5222A>T (p.Gln1741Leu) c.4850A>T (p.Gln1617Leu) c.5006A>T (p.Gln1669Leu) c.5213A>T (p.Gln1738Leu) c.4514A>T (p.Gln1505Leu) c.5261A>T (p.Gln1754Leu) | |
16 | g.3729780T>C | CA7869300 | CREBBP | c.5267A>G (p.Gln1756Arg) c.5153A>G (p.Gln1718Arg) c.5222A>G (p.Gln1741Arg) c.4850A>G (p.Gln1617Arg) c.5006A>G (p.Gln1669Arg) c.5213A>G (p.Gln1738Arg) c.4514A>G (p.Gln1505Arg) c.5261A>G (p.Gln1754Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729780T>G | CA394557423 | CREBBP | c.5267A>C (p.Gln1756Pro) c.5153A>C (p.Gln1718Pro) c.5222A>C (p.Gln1741Pro) c.4850A>C (p.Gln1617Pro) c.5006A>C (p.Gln1669Pro) c.5213A>C (p.Gln1738Pro) c.4514A>C (p.Gln1505Pro) c.5261A>C (p.Gln1754Pro) | |
16 | g.3729780T= | CA2202916527 | CREBBP | c.5267A= (p.Gln1756=) c.5153A= (p.Gln1718=) c.5222A= (p.Gln1741=) c.4850A= (p.Gln1617=) c.5006A= (p.Gln1669=) c.5213A= (p.Gln1738=) c.4514A= (p.Gln1505=) c.5261A= (p.Gln1754=) | |
16 | g.3729780_3729781del | CA645575163 | CREBBP | c.5266_5267del (p.Gln1756GlyfsTer?) c.5152_5153del (p.Gln1718GlyfsTer?) c.5221_5222del (p.Gln1741GlyfsTer?) c.4849_4850del (p.Gln1617GlyfsTer?) c.5005_5006del (p.Gln1669GlyfsTer?) c.5212_5213del (p.Gln1738GlyfsTer?) c.4513_4514del (p.Gln1505GlyfsTer?) c.5260_5261del (p.Gln1754GlyfsTer?) | COSMIC |
16 | g.3729780_3729785del | CA919643073 | CREBBP | c.5262_5267del (p.Ser1754_Gln1756delinsArg) c.5148_5153del (p.Ser1716_Gln1718delinsArg) c.5217_5222del (p.Ser1739_Gln1741delinsArg) c.4845_4850del (p.Ser1615_Gln1617delinsArg) c.5001_5006del (p.Ser1667_Gln1669delinsArg) c.5208_5213del (p.Ser1736_Gln1738delinsArg) c.4509_4514del (p.Ser1503_Gln1505delinsArg) c.5256_5261del (p.Ser1752_Gln1754delinsArg) | dbSNP |
16 | g.3729781G>A | CA394557425 | CREBBP | c.5266C>T (p.Gln1756Ter) c.5152C>T (p.Gln1718Ter) c.5221C>T (p.Gln1741Ter) c.4849C>T (p.Gln1617Ter) c.5005C>T (p.Gln1669Ter) c.5212C>T (p.Gln1738Ter) c.4513C>T (p.Gln1505Ter) c.5260C>T (p.Gln1754Ter) | COSMIC |
16 | g.3729781G>C | CA7869301 | CREBBP | c.5266C>G (p.Gln1756Glu) c.5152C>G (p.Gln1718Glu) c.5221C>G (p.Gln1741Glu) c.4849C>G (p.Gln1617Glu) c.5005C>G (p.Gln1669Glu) c.5212C>G (p.Gln1738Glu) c.4513C>G (p.Gln1505Glu) c.5260C>G (p.Gln1754Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729781G= | CA2202916528 | CREBBP | c.5266C= (p.Gln1756=) c.5152C= (p.Gln1718=) c.5221C= (p.Gln1741=) c.4849C= (p.Gln1617=) c.5005C= (p.Gln1669=) c.5212C= (p.Gln1738=) c.4513C= (p.Gln1505=) c.5260C= (p.Gln1754=) | |
16 | g.3729781G>T | CA394557427 | CREBBP | c.5266C>A (p.Gln1756Lys) c.5152C>A (p.Gln1718Lys) c.5221C>A (p.Gln1741Lys) c.4849C>A (p.Gln1617Lys) c.5005C>A (p.Gln1669Lys) c.5212C>A (p.Gln1738Lys) c.4513C>A (p.Gln1505Lys) c.5260C>A (p.Gln1754Lys) | gnomAD v4 |
16 | g.3729782G>A | CA493394264 | CREBBP | c.5265C>T (p.Ser1755=) c.5151C>T (p.Ser1717=) c.5220C>T (p.Ser1740=) c.4848C>T (p.Ser1616=) c.5004C>T (p.Ser1668=) c.5211C>T (p.Ser1737=) c.4512C>T (p.Ser1504=) c.5259C>T (p.Ser1753=) | dbSNP |
16 | g.3729782G>C | CA394557428 | CREBBP | c.5265C>G (p.Ser1755Arg) c.5151C>G (p.Ser1717Arg) c.5220C>G (p.Ser1740Arg) c.4848C>G (p.Ser1616Arg) c.5004C>G (p.Ser1668Arg) c.5211C>G (p.Ser1737Arg) c.4512C>G (p.Ser1504Arg) c.5259C>G (p.Ser1753Arg) | dbSNP |
16 | g.3729782G>T | CA394557430 | CREBBP | c.5265C>A (p.Ser1755Arg) c.5151C>A (p.Ser1717Arg) c.5220C>A (p.Ser1740Arg) c.4848C>A (p.Ser1616Arg) c.5004C>A (p.Ser1668Arg) c.5211C>A (p.Ser1737Arg) c.4512C>A (p.Ser1504Arg) c.5259C>A (p.Ser1753Arg) | dbSNP gnomAD v4 |
16 | g.3729783C>A | CA394557435 | CREBBP | c.5264G>T (p.Ser1755Ile) c.5150G>T (p.Ser1717Ile) c.5219G>T (p.Ser1740Ile) c.4847G>T (p.Ser1616Ile) c.5003G>T (p.Ser1668Ile) c.5210G>T (p.Ser1737Ile) c.4511G>T (p.Ser1504Ile) c.5258G>T (p.Ser1753Ile) | dbSNP |
16 | g.3729783C= | CA2202916529 | CREBBP | c.5264G= (p.Ser1755=) c.5150G= (p.Ser1717=) c.5219G= (p.Ser1740=) c.4847G= (p.Ser1616=) c.5003G= (p.Ser1668=) c.5210G= (p.Ser1737=) c.4511G= (p.Ser1504=) c.5258G= (p.Ser1753=) | |
16 | g.3729783C>G | CA394557433 | CREBBP | c.5264G>C (p.Ser1755Thr) c.5150G>C (p.Ser1717Thr) c.5219G>C (p.Ser1740Thr) c.4847G>C (p.Ser1616Thr) c.5003G>C (p.Ser1668Thr) c.5210G>C (p.Ser1737Thr) c.4511G>C (p.Ser1504Thr) c.5258G>C (p.Ser1753Thr) | dbSNP |
16 | g.3729783C>T | CA7869302 | CREBBP | c.5264G>A (p.Ser1755Asn) c.5150G>A (p.Ser1717Asn) c.5219G>A (p.Ser1740Asn) c.4847G>A (p.Ser1616Asn) c.5003G>A (p.Ser1668Asn) c.5210G>A (p.Ser1737Asn) c.4511G>A (p.Ser1504Asn) c.5258G>A (p.Ser1753Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729784T>A | CA394557437 | CREBBP | c.5263A>T (p.Ser1755Cys) c.5149A>T (p.Ser1717Cys) c.5218A>T (p.Ser1740Cys) c.4846A>T (p.Ser1616Cys) c.5002A>T (p.Ser1668Cys) c.5209A>T (p.Ser1737Cys) c.4510A>T (p.Ser1504Cys) c.5257A>T (p.Ser1753Cys) | dbSNP |
16 | g.3729784T>C | CA394557439 | CREBBP | c.5263A>G (p.Ser1755Gly) c.5149A>G (p.Ser1717Gly) c.5218A>G (p.Ser1740Gly) c.4846A>G (p.Ser1616Gly) c.5002A>G (p.Ser1668Gly) c.5209A>G (p.Ser1737Gly) c.4510A>G (p.Ser1504Gly) c.5257A>G (p.Ser1753Gly) | dbSNP gnomAD v4 |
16 | g.3729784T>G | CA394557440 | CREBBP | c.5263A>C (p.Ser1755Arg) c.5149A>C (p.Ser1717Arg) c.5218A>C (p.Ser1740Arg) c.4846A>C (p.Ser1616Arg) c.5002A>C (p.Ser1668Arg) c.5209A>C (p.Ser1737Arg) c.4510A>C (p.Ser1504Arg) c.5257A>C (p.Ser1753Arg) | |
16 | g.3729784T= | CA2202916530 | CREBBP | c.5263A= (p.Ser1755=) c.5149A= (p.Ser1717=) c.5218A= (p.Ser1740=) c.4846A= (p.Ser1616=) c.5002A= (p.Ser1668=) c.5209A= (p.Ser1737=) c.4510A= (p.Ser1504=) c.5257A= (p.Ser1753=) | |
16 | g.3729785G>A | CA493394267 | CREBBP | c.5262C>T (p.Ser1754=) c.5148C>T (p.Ser1716=) c.5217C>T (p.Ser1739=) c.4845C>T (p.Ser1615=) c.5001C>T (p.Ser1667=) c.5208C>T (p.Ser1736=) c.4509C>T (p.Ser1503=) c.5256C>T (p.Ser1752=) | gnomAD v4 |
16 | g.3729785G>C | CA394557443 | CREBBP | c.5262C>G (p.Ser1754Arg) c.5148C>G (p.Ser1716Arg) c.5217C>G (p.Ser1739Arg) c.4845C>G (p.Ser1615Arg) c.5001C>G (p.Ser1667Arg) c.5208C>G (p.Ser1736Arg) c.4509C>G (p.Ser1503Arg) c.5256C>G (p.Ser1752Arg) | dbSNP |
16 | g.3729785G>T | CA394557444 | CREBBP | c.5262C>A (p.Ser1754Arg) c.5148C>A (p.Ser1716Arg) c.5217C>A (p.Ser1739Arg) c.4845C>A (p.Ser1615Arg) c.5001C>A (p.Ser1667Arg) c.5208C>A (p.Ser1736Arg) c.4509C>A (p.Ser1503Arg) c.5256C>A (p.Ser1752Arg) | gnomAD v4 |
16 | g.3729786C>A | CA394557448 | CREBBP | c.5261G>T (p.Ser1754Ile) c.5147G>T (p.Ser1716Ile) c.5216G>T (p.Ser1739Ile) c.4844G>T (p.Ser1615Ile) c.5000G>T (p.Ser1667Ile) c.5207G>T (p.Ser1736Ile) c.4508G>T (p.Ser1503Ile) c.5255G>T (p.Ser1752Ile) | |
16 | g.3729786C>G | CA394557450 | CREBBP | c.5261G>C (p.Ser1754Thr) c.5147G>C (p.Ser1716Thr) c.5216G>C (p.Ser1739Thr) c.4844G>C (p.Ser1615Thr) c.5000G>C (p.Ser1667Thr) c.5207G>C (p.Ser1736Thr) c.4508G>C (p.Ser1503Thr) c.5255G>C (p.Ser1752Thr) | dbSNP |
16 | g.3729786C>T | CA394557452 | CREBBP | c.5261G>A (p.Ser1754Asn) c.5147G>A (p.Ser1716Asn) c.5216G>A (p.Ser1739Asn) c.4844G>A (p.Ser1615Asn) c.5000G>A (p.Ser1667Asn) c.5207G>A (p.Ser1736Asn) c.4508G>A (p.Ser1503Asn) c.5255G>A (p.Ser1752Asn) | dbSNP gnomAD v4 COSMIC |
16 | g.3729787T>A | CA394557453 | CREBBP | c.5260A>T (p.Ser1754Cys) c.5146A>T (p.Ser1716Cys) c.5215A>T (p.Ser1739Cys) c.4843A>T (p.Ser1615Cys) c.4999A>T (p.Ser1667Cys) c.5206A>T (p.Ser1736Cys) c.4507A>T (p.Ser1503Cys) c.5254A>T (p.Ser1752Cys) | dbSNP |
16 | g.3729787T>C | CA394557455 | CREBBP | c.5260A>G (p.Ser1754Gly) c.5146A>G (p.Ser1716Gly) c.5215A>G (p.Ser1739Gly) c.4843A>G (p.Ser1615Gly) c.4999A>G (p.Ser1667Gly) c.5206A>G (p.Ser1736Gly) c.4507A>G (p.Ser1503Gly) c.5254A>G (p.Ser1752Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729787T>G | CA394557457 | CREBBP | c.5260A>C (p.Ser1754Arg) c.5146A>C (p.Ser1716Arg) c.5215A>C (p.Ser1739Arg) c.4843A>C (p.Ser1615Arg) c.4999A>C (p.Ser1667Arg) c.5206A>C (p.Ser1736Arg) c.4507A>C (p.Ser1503Arg) c.5254A>C (p.Ser1752Arg) | |
16 | g.3729787T= | CA2202916531 | CREBBP | c.5260A= (p.Ser1754=) c.5146A= (p.Ser1716=) c.5215A= (p.Ser1739=) c.4843A= (p.Ser1615=) c.4999A= (p.Ser1667=) c.5206A= (p.Ser1736=) c.4507A= (p.Ser1503=) c.5254A= (p.Ser1752=) | |
16 | g.3729788G>A | CA493394269 | CREBBP | c.5259C>T (p.Gly1753=) c.5145C>T (p.Gly1715=) c.5214C>T (p.Gly1738=) c.4842C>T (p.Gly1614=) c.4998C>T (p.Gly1666=) c.5205C>T (p.Gly1735=) c.4506C>T (p.Gly1502=) c.5253C>T (p.Gly1751=) | gnomAD v4 |
16 | g.3729788G>C | CA493394271 | CREBBP | c.5259C>G (p.Gly1753=) c.5145C>G (p.Gly1715=) c.5214C>G (p.Gly1738=) c.4842C>G (p.Gly1614=) c.4998C>G (p.Gly1666=) c.5205C>G (p.Gly1735=) c.4506C>G (p.Gly1502=) c.5253C>G (p.Gly1751=) | dbSNP |
16 | g.3729788G= | CA2202916532 | CREBBP | c.5259C= (p.Gly1753=) c.5145C= (p.Gly1715=) c.5214C= (p.Gly1738=) c.4842C= (p.Gly1614=) c.4998C= (p.Gly1666=) c.5205C= (p.Gly1735=) c.4506C= (p.Gly1502=) c.5253C= (p.Gly1751=) | |
16 | g.3729788G>T | CA493394272 | CREBBP | c.5259C>A (p.Gly1753=) c.5145C>A (p.Gly1715=) c.5214C>A (p.Gly1738=) c.4842C>A (p.Gly1614=) c.4998C>A (p.Gly1666=) c.5205C>A (p.Gly1735=) c.4506C>A (p.Gly1502=) c.5253C>A (p.Gly1751=) | gnomAD v4 |
16 | g.3729789C>A | CA394557462 | CREBBP | c.5258G>T (p.Gly1753Val) c.5144G>T (p.Gly1715Val) c.5213G>T (p.Gly1738Val) c.4841G>T (p.Gly1614Val) c.4997G>T (p.Gly1666Val) c.5204G>T (p.Gly1735Val) c.4505G>T (p.Gly1502Val) c.5252G>T (p.Gly1751Val) | |
16 | g.3729789C>G | CA394557463 | CREBBP | c.5258G>C (p.Gly1753Ala) c.5144G>C (p.Gly1715Ala) c.5213G>C (p.Gly1738Ala) c.4841G>C (p.Gly1614Ala) c.4997G>C (p.Gly1666Ala) c.5204G>C (p.Gly1735Ala) c.4505G>C (p.Gly1502Ala) c.5252G>C (p.Gly1751Ala) | |
16 | g.3729789C>T | CA394557460 | CREBBP | c.5258G>A (p.Gly1753Asp) c.5144G>A (p.Gly1715Asp) c.5213G>A (p.Gly1738Asp) c.4841G>A (p.Gly1614Asp) c.4997G>A (p.Gly1666Asp) c.5204G>A (p.Gly1735Asp) c.4505G>A (p.Gly1502Asp) c.5252G>A (p.Gly1751Asp) | |
16 | g.3729790C>A | CA394557466 | CREBBP | c.5257G>T (p.Gly1753Cys) c.5143G>T (p.Gly1715Cys) c.5212G>T (p.Gly1738Cys) c.4840G>T (p.Gly1614Cys) c.4996G>T (p.Gly1666Cys) c.5203G>T (p.Gly1735Cys) c.4504G>T (p.Gly1502Cys) c.5251G>T (p.Gly1751Cys) | |
16 | g.3729790C>G | CA394557468 | CREBBP | c.5257G>C (p.Gly1753Arg) c.5143G>C (p.Gly1715Arg) c.5212G>C (p.Gly1738Arg) c.4840G>C (p.Gly1614Arg) c.4996G>C (p.Gly1666Arg) c.5203G>C (p.Gly1735Arg) c.4504G>C (p.Gly1502Arg) c.5251G>C (p.Gly1751Arg) | dbSNP |
16 | g.3729790C>T | CA394557469 | CREBBP | c.5257G>A (p.Gly1753Ser) c.5143G>A (p.Gly1715Ser) c.5212G>A (p.Gly1738Ser) c.4840G>A (p.Gly1614Ser) c.4996G>A (p.Gly1666Ser) c.5203G>A (p.Gly1735Ser) c.4504G>A (p.Gly1502Ser) c.5251G>A (p.Gly1751Ser) | dbSNP |
16 | g.3729791C>A | CA394557471 | CREBBP | c.5256G>T (p.Glu1752Asp) c.5142G>T (p.Glu1714Asp) c.5211G>T (p.Glu1737Asp) c.4839G>T (p.Glu1613Asp) c.4995G>T (p.Glu1665Asp) c.5202G>T (p.Glu1734Asp) c.4503G>T (p.Glu1501Asp) c.5250G>T (p.Glu1750Asp) | dbSNP |
16 | g.3729791C= | CA2202916533 | CREBBP | c.5256G= (p.Glu1752=) c.5142G= (p.Glu1714=) c.5211G= (p.Glu1737=) c.4839G= (p.Glu1613=) c.4995G= (p.Glu1665=) c.5202G= (p.Glu1734=) c.4503G= (p.Glu1501=) c.5250G= (p.Glu1750=) | |
16 | g.3729791C>G | CA394557472 | CREBBP | c.5256G>C (p.Glu1752Asp) c.5142G>C (p.Glu1714Asp) c.5211G>C (p.Glu1737Asp) c.4839G>C (p.Glu1613Asp) c.4995G>C (p.Glu1665Asp) c.5202G>C (p.Glu1734Asp) c.4503G>C (p.Glu1501Asp) c.5250G>C (p.Glu1750Asp) | dbSNP |
16 | g.3729791C>T | CA493394275 | CREBBP | c.5256G>A (p.Glu1752=) c.5142G>A (p.Glu1714=) c.5211G>A (p.Glu1737=) c.4839G>A (p.Glu1613=) c.4995G>A (p.Glu1665=) c.5202G>A (p.Glu1734=) c.4503G>A (p.Glu1501=) c.5250G>A (p.Glu1750=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729792T>A | CA394557474 | CREBBP | c.5255A>T (p.Glu1752Val) c.5141A>T (p.Glu1714Val) c.5210A>T (p.Glu1737Val) c.4838A>T (p.Glu1613Val) c.4994A>T (p.Glu1665Val) c.5201A>T (p.Glu1734Val) c.4502A>T (p.Glu1501Val) c.5249A>T (p.Glu1750Val) | dbSNP |
16 | g.3729792T>C | CA394557475 | CREBBP | c.5255A>G (p.Glu1752Gly) c.5141A>G (p.Glu1714Gly) c.5210A>G (p.Glu1737Gly) c.4838A>G (p.Glu1613Gly) c.4994A>G (p.Glu1665Gly) c.5201A>G (p.Glu1734Gly) c.4502A>G (p.Glu1501Gly) c.5249A>G (p.Glu1750Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729792T>G | CA394557476 | CREBBP | c.5255A>C (p.Glu1752Ala) c.5141A>C (p.Glu1714Ala) c.5210A>C (p.Glu1737Ala) c.4838A>C (p.Glu1613Ala) c.4994A>C (p.Glu1665Ala) c.5201A>C (p.Glu1734Ala) c.4502A>C (p.Glu1501Ala) c.5249A>C (p.Glu1750Ala) | |
16 | g.3729792T= | CA2202916534 | CREBBP | c.5255A= (p.Glu1752=) c.5141A= (p.Glu1714=) c.5210A= (p.Glu1737=) c.4838A= (p.Glu1613=) c.4994A= (p.Glu1665=) c.5201A= (p.Glu1734=) c.4502A= (p.Glu1501=) c.5249A= (p.Glu1750=) | |
16 | g.3729793C>A | CA394557479 | CREBBP | c.5254G>T (p.Glu1752Ter) c.5140G>T (p.Glu1714Ter) c.5209G>T (p.Glu1737Ter) c.4837G>T (p.Glu1613Ter) c.4993G>T (p.Glu1665Ter) c.5200G>T (p.Glu1734Ter) c.4501G>T (p.Glu1501Ter) c.5248G>T (p.Glu1750Ter) | dbSNP |
16 | g.3729793C= | CA2202916535 | CREBBP | c.5254G= (p.Glu1752=) c.5140G= (p.Glu1714=) c.5209G= (p.Glu1737=) c.4837G= (p.Glu1613=) c.4993G= (p.Glu1665=) c.5200G= (p.Glu1734=) c.4501G= (p.Glu1501=) c.5248G= (p.Glu1750=) | |
16 | g.3729793C>G | CA394557481 | CREBBP | c.5254G>C (p.Glu1752Gln) c.5140G>C (p.Glu1714Gln) c.5209G>C (p.Glu1737Gln) c.4837G>C (p.Glu1613Gln) c.4993G>C (p.Glu1665Gln) c.5200G>C (p.Glu1734Gln) c.4501G>C (p.Glu1501Gln) c.5248G>C (p.Glu1750Gln) | dbSNP |
16 | g.3729793C>T | CA276972314 | CREBBP | c.5254G>A (p.Glu1752Lys) c.5140G>A (p.Glu1714Lys) c.5209G>A (p.Glu1737Lys) c.4837G>A (p.Glu1613Lys) c.4993G>A (p.Glu1665Lys) c.5200G>A (p.Glu1734Lys) c.4501G>A (p.Glu1501Lys) c.5248G>A (p.Glu1750Lys) | dbSNP gnomAD v4 |
16 | g.3729794G>A | CA493394279 | CREBBP | c.5253C>T (p.Asp1751=) c.5139C>T (p.Asp1713=) c.5208C>T (p.Asp1736=) c.4836C>T (p.Asp1612=) c.4992C>T (p.Asp1664=) c.5199C>T (p.Asp1733=) c.4500C>T (p.Asp1500=) c.5247C>T (p.Asp1749=) | dbSNP gnomAD v4 |
16 | g.3729794G>C | CA394557483 | CREBBP | c.5253C>G (p.Asp1751Glu) c.5139C>G (p.Asp1713Glu) c.5208C>G (p.Asp1736Glu) c.4836C>G (p.Asp1612Glu) c.4992C>G (p.Asp1664Glu) c.5199C>G (p.Asp1733Glu) c.4500C>G (p.Asp1500Glu) c.5247C>G (p.Asp1749Glu) | dbSNP |
16 | g.3729794G= | CA2202916536 | CREBBP | c.5253C= (p.Asp1751=) c.5139C= (p.Asp1713=) c.5208C= (p.Asp1736=) c.4836C= (p.Asp1612=) c.4992C= (p.Asp1664=) c.5199C= (p.Asp1733=) c.4500C= (p.Asp1500=) c.5247C= (p.Asp1749=) | |
16 | g.3729794G>T | CA394557485 | CREBBP | c.5253C>A (p.Asp1751Glu) c.5139C>A (p.Asp1713Glu) c.5208C>A (p.Asp1736Glu) c.4836C>A (p.Asp1612Glu) c.4992C>A (p.Asp1664Glu) c.5199C>A (p.Asp1733Glu) c.4500C>A (p.Asp1500Glu) c.5247C>A (p.Asp1749Glu) | gnomAD v4 |
16 | g.3729795T>A | CA394557491 | CREBBP | c.5252A>T (p.Asp1751Val) c.5138A>T (p.Asp1713Val) c.5207A>T (p.Asp1736Val) c.4835A>T (p.Asp1612Val) c.4991A>T (p.Asp1664Val) c.5198A>T (p.Asp1733Val) c.4499A>T (p.Asp1500Val) c.5246A>T (p.Asp1749Val) | dbSNP |
16 | g.3729795T>C | CA394557489 | CREBBP | c.5252A>G (p.Asp1751Gly) c.5138A>G (p.Asp1713Gly) c.5207A>G (p.Asp1736Gly) c.4835A>G (p.Asp1612Gly) c.4991A>G (p.Asp1664Gly) c.5198A>G (p.Asp1733Gly) c.4499A>G (p.Asp1500Gly) c.5246A>G (p.Asp1749Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729795T>G | CA394557487 | CREBBP | c.5252A>C (p.Asp1751Ala) c.5138A>C (p.Asp1713Ala) c.5207A>C (p.Asp1736Ala) c.4835A>C (p.Asp1612Ala) c.4991A>C (p.Asp1664Ala) c.5198A>C (p.Asp1733Ala) c.4499A>C (p.Asp1500Ala) c.5246A>C (p.Asp1749Ala) | dbSNP |
16 | g.3729795T= | CA2202916537 | CREBBP | c.5252A= (p.Asp1751=) c.5138A= (p.Asp1713=) c.5207A= (p.Asp1736=) c.4835A= (p.Asp1612=) c.4991A= (p.Asp1664=) c.5198A= (p.Asp1733=) c.4499A= (p.Asp1500=) c.5246A= (p.Asp1749=) | |
16 | g.3729796C>A | CA394557493 | CREBBP | c.5251G>T (p.Asp1751Tyr) c.5137G>T (p.Asp1713Tyr) c.5206G>T (p.Asp1736Tyr) c.4834G>T (p.Asp1612Tyr) c.4990G>T (p.Asp1664Tyr) c.5197G>T (p.Asp1733Tyr) c.4498G>T (p.Asp1500Tyr) c.5245G>T (p.Asp1749Tyr) | dbSNP |
16 | g.3729796C>G | CA394557494 | CREBBP | c.5251G>C (p.Asp1751His) c.5137G>C (p.Asp1713His) c.5206G>C (p.Asp1736His) c.4834G>C (p.Asp1612His) c.4990G>C (p.Asp1664His) c.5197G>C (p.Asp1733His) c.4498G>C (p.Asp1500His) c.5245G>C (p.Asp1749His) | dbSNP gnomAD v4 |
16 | g.3729796C>T | CA394557496 | CREBBP | c.5251G>A (p.Asp1751Asn) c.5137G>A (p.Asp1713Asn) c.5206G>A (p.Asp1736Asn) c.4834G>A (p.Asp1612Asn) c.4990G>A (p.Asp1664Asn) c.5197G>A (p.Asp1733Asn) c.4498G>A (p.Asp1500Asn) c.5245G>A (p.Asp1749Asn) | dbSNP |
16 | g.3729797A= | CA2202916538 | CREBBP | c.5250T= (p.Asp1750=) c.5136T= (p.Asp1712=) c.5205T= (p.Asp1735=) c.4833T= (p.Asp1611=) c.4989T= (p.Asp1663=) c.5196T= (p.Asp1732=) c.4497T= (p.Asp1499=) c.5244T= (p.Asp1748=) | |
16 | g.3729797A>C | CA394557498 | CREBBP | c.5250T>G (p.Asp1750Glu) c.5136T>G (p.Asp1712Glu) c.5205T>G (p.Asp1735Glu) c.4833T>G (p.Asp1611Glu) c.4989T>G (p.Asp1663Glu) c.5196T>G (p.Asp1732Glu) c.4497T>G (p.Asp1499Glu) c.5244T>G (p.Asp1748Glu) | dbSNP |
16 | g.3729797A>G | CA7869303 | CREBBP | c.5250T>C (p.Asp1750=) c.5136T>C (p.Asp1712=) c.5205T>C (p.Asp1735=) c.4833T>C (p.Asp1611=) c.4989T>C (p.Asp1663=) c.5196T>C (p.Asp1732=) c.4497T>C (p.Asp1499=) c.5244T>C (p.Asp1748=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729797A>T | CA394557501 | CREBBP | c.5250T>A (p.Asp1750Glu) c.5136T>A (p.Asp1712Glu) c.5205T>A (p.Asp1735Glu) c.4833T>A (p.Asp1611Glu) c.4989T>A (p.Asp1663Glu) c.5196T>A (p.Asp1732Glu) c.4497T>A (p.Asp1499Glu) c.5244T>A (p.Asp1748Glu) | dbSNP |
16 | g.3729798T>A | CA394557504 | CREBBP | c.5249A>T (p.Asp1750Val) c.5135A>T (p.Asp1712Val) c.5204A>T (p.Asp1735Val) c.4832A>T (p.Asp1611Val) c.4988A>T (p.Asp1663Val) c.5195A>T (p.Asp1732Val) c.4496A>T (p.Asp1499Val) c.5243A>T (p.Asp1748Val) | |
16 | g.3729798T>C | CA394557505 | CREBBP | c.5249A>G (p.Asp1750Gly) c.5135A>G (p.Asp1712Gly) c.5204A>G (p.Asp1735Gly) c.4832A>G (p.Asp1611Gly) c.4988A>G (p.Asp1663Gly) c.5195A>G (p.Asp1732Gly) c.4496A>G (p.Asp1499Gly) c.5243A>G (p.Asp1748Gly) | |
16 | g.3729798T>G | CA394557507 | CREBBP | c.5249A>C (p.Asp1750Ala) c.5135A>C (p.Asp1712Ala) c.5204A>C (p.Asp1735Ala) c.4832A>C (p.Asp1611Ala) c.4988A>C (p.Asp1663Ala) c.5195A>C (p.Asp1732Ala) c.4496A>C (p.Asp1499Ala) c.5243A>C (p.Asp1748Ala) | |
16 | g.3729799C>A | CA394557509 | CREBBP | c.5248G>T (p.Asp1750Tyr) c.5134G>T (p.Asp1712Tyr) c.5203G>T (p.Asp1735Tyr) c.4831G>T (p.Asp1611Tyr) c.4987G>T (p.Asp1663Tyr) c.5194G>T (p.Asp1732Tyr) c.4495G>T (p.Asp1499Tyr) c.5242G>T (p.Asp1748Tyr) | dbSNP gnomAD v4 |
16 | g.3729799C= | CA2202916539 | CREBBP | c.5248G= (p.Asp1750=) c.5134G= (p.Asp1712=) c.5203G= (p.Asp1735=) c.4831G= (p.Asp1611=) c.4987G= (p.Asp1663=) c.5194G= (p.Asp1732=) c.4495G= (p.Asp1499=) c.5242G= (p.Asp1748=) | |
16 | g.3729799C>G | CA394557511 | CREBBP | c.5248G>C (p.Asp1750His) c.5134G>C (p.Asp1712His) c.5203G>C (p.Asp1735His) c.4831G>C (p.Asp1611His) c.4987G>C (p.Asp1663His) c.5194G>C (p.Asp1732His) c.4495G>C (p.Asp1499His) c.5242G>C (p.Asp1748His) | dbSNP |
16 | g.3729799C>T | CA394557513 | CREBBP | c.5248G>A (p.Asp1750Asn) c.5134G>A (p.Asp1712Asn) c.5203G>A (p.Asp1735Asn) c.4831G>A (p.Asp1611Asn) c.4987G>A (p.Asp1663Asn) c.5194G>A (p.Asp1732Asn) c.4495G>A (p.Asp1499Asn) c.5242G>A (p.Asp1748Asn) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729800C>A | CA493394286 | CREBBP | c.5247G>T (p.Leu1749=) c.5133G>T (p.Leu1711=) c.5202G>T (p.Leu1734=) c.4830G>T (p.Leu1610=) c.4986G>T (p.Leu1662=) c.5193G>T (p.Leu1731=) c.4494G>T (p.Leu1498=) c.5241G>T (p.Leu1747=) | |
16 | g.3729800C= | CA2202916540 | CREBBP | c.5247G= (p.Leu1749=) c.5133G= (p.Leu1711=) c.5202G= (p.Leu1734=) c.4830G= (p.Leu1610=) c.4986G= (p.Leu1662=) c.5193G= (p.Leu1731=) c.4494G= (p.Leu1498=) c.5241G= (p.Leu1747=) | |
16 | g.3729800C>G | CA493394284 | CREBBP | c.5247G>C (p.Leu1749=) c.5133G>C (p.Leu1711=) c.5202G>C (p.Leu1734=) c.4830G>C (p.Leu1610=) c.4986G>C (p.Leu1662=) c.5193G>C (p.Leu1731=) c.4494G>C (p.Leu1498=) c.5241G>C (p.Leu1747=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729800C>T | CA493394285 | CREBBP | c.5247G>A (p.Leu1749=) c.5133G>A (p.Leu1711=) c.5202G>A (p.Leu1734=) c.4830G>A (p.Leu1610=) c.4986G>A (p.Leu1662=) c.5193G>A (p.Leu1731=) c.4494G>A (p.Leu1498=) c.5241G>A (p.Leu1747=) | dbSNP |
16 | g.3729801A>C | CA394557518 | CREBBP | c.5246T>G (p.Leu1749Arg) c.5132T>G (p.Leu1711Arg) c.5201T>G (p.Leu1734Arg) c.4829T>G (p.Leu1610Arg) c.4985T>G (p.Leu1662Arg) c.5192T>G (p.Leu1731Arg) c.4493T>G (p.Leu1498Arg) c.5240T>G (p.Leu1747Arg) | |
16 | g.3729801A>G | CA394557517 | CREBBP | c.5246T>C (p.Leu1749Pro) c.5132T>C (p.Leu1711Pro) c.5201T>C (p.Leu1734Pro) c.4829T>C (p.Leu1610Pro) c.4985T>C (p.Leu1662Pro) c.5192T>C (p.Leu1731Pro) c.4493T>C (p.Leu1498Pro) c.5240T>C (p.Leu1747Pro) | dbSNP |
16 | g.3729801A>T | CA394557515 | CREBBP | c.5246T>A (p.Leu1749Gln) c.5132T>A (p.Leu1711Gln) c.5201T>A (p.Leu1734Gln) c.4829T>A (p.Leu1610Gln) c.4985T>A (p.Leu1662Gln) c.5192T>A (p.Leu1731Gln) c.4493T>A (p.Leu1498Gln) c.5240T>A (p.Leu1747Gln) | dbSNP |
16 | g.3729802G>A | CA7869304 | CREBBP | c.5245C>T (p.Leu1749=) c.5131C>T (p.Leu1711=) c.5200C>T (p.Leu1734=) c.4828C>T (p.Leu1610=) c.4984C>T (p.Leu1662=) c.5191C>T (p.Leu1731=) c.4492C>T (p.Leu1498=) c.5239C>T (p.Leu1747=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729802G>C | CA394557524 | CREBBP | c.5245C>G (p.Leu1749Val) c.5131C>G (p.Leu1711Val) c.5200C>G (p.Leu1734Val) c.4828C>G (p.Leu1610Val) c.4984C>G (p.Leu1662Val) c.5191C>G (p.Leu1731Val) c.4492C>G (p.Leu1498Val) c.5239C>G (p.Leu1747Val) | ClinVar dbSNP |
16 | g.3729802G= | CA2202916541 | CREBBP | c.5245C= (p.Leu1749=) c.5131C= (p.Leu1711=) c.5200C= (p.Leu1734=) c.4828C= (p.Leu1610=) c.4984C= (p.Leu1662=) c.5191C= (p.Leu1731=) c.4492C= (p.Leu1498=) c.5239C= (p.Leu1747=) | |
16 | g.3729802G>T | CA394557522 | CREBBP | c.5245C>A (p.Leu1749Met) c.5131C>A (p.Leu1711Met) c.5200C>A (p.Leu1734Met) c.4828C>A (p.Leu1610Met) c.4984C>A (p.Leu1662Met) c.5191C>A (p.Leu1731Met) c.4492C>A (p.Leu1498Met) c.5239C>A (p.Leu1747Met) | dbSNP gnomAD v4 |
16 | g.3729803G>A | CA493394291 | CREBBP | c.5244C>T (p.Gly1748=) c.5130C>T (p.Gly1710=) c.5199C>T (p.Gly1733=) c.4827C>T (p.Gly1609=) c.4983C>T (p.Gly1661=) c.5190C>T (p.Gly1730=) c.4491C>T (p.Gly1497=) c.5238C>T (p.Gly1746=) | gnomAD v4 |
16 | g.3729803G>C | CA493394292 | CREBBP | c.5244C>G (p.Gly1748=) c.5130C>G (p.Gly1710=) c.5199C>G (p.Gly1733=) c.4827C>G (p.Gly1609=) c.4983C>G (p.Gly1661=) c.5190C>G (p.Gly1730=) c.4491C>G (p.Gly1497=) c.5238C>G (p.Gly1746=) | |
16 | g.3729803G>T | CA493394293 | CREBBP | c.5244C>A (p.Gly1748=) c.5130C>A (p.Gly1710=) c.5199C>A (p.Gly1733=) c.4827C>A (p.Gly1609=) c.4983C>A (p.Gly1661=) c.5190C>A (p.Gly1730=) c.4491C>A (p.Gly1497=) c.5238C>A (p.Gly1746=) | gnomAD v4 |
16 | g.3729804C>A | CA394557526 | CREBBP | c.5243G>T (p.Gly1748Val) c.5129G>T (p.Gly1710Val) c.5198G>T (p.Gly1733Val) c.4826G>T (p.Gly1609Val) c.4982G>T (p.Gly1661Val) c.5189G>T (p.Gly1730Val) c.4490G>T (p.Gly1497Val) c.5237G>T (p.Gly1746Val) | dbSNP gnomAD v4 |
16 | g.3729804C= | CA2202916542 | CREBBP | c.5243G= (p.Gly1748=) c.5129G= (p.Gly1710=) c.5198G= (p.Gly1733=) c.4826G= (p.Gly1609=) c.4982G= (p.Gly1661=) c.5189G= (p.Gly1730=) c.4490G= (p.Gly1497=) c.5237G= (p.Gly1746=) | |
16 | g.3729804C>G | CA394557528 | CREBBP | c.5243G>C (p.Gly1748Ala) c.5129G>C (p.Gly1710Ala) c.5198G>C (p.Gly1733Ala) c.4826G>C (p.Gly1609Ala) c.4982G>C (p.Gly1661Ala) c.5189G>C (p.Gly1730Ala) c.4490G>C (p.Gly1497Ala) c.5237G>C (p.Gly1746Ala) | dbSNP |
16 | g.3729804C>T | CA394557530 | CREBBP | c.5243G>A (p.Gly1748Asp) c.5129G>A (p.Gly1710Asp) c.5198G>A (p.Gly1733Asp) c.4826G>A (p.Gly1609Asp) c.4982G>A (p.Gly1661Asp) c.5189G>A (p.Gly1730Asp) c.4490G>A (p.Gly1497Asp) c.5237G>A (p.Gly1746Asp) | dbSNP |
16 | g.3729805C>A | CA394557532 | CREBBP | c.5242G>T (p.Gly1748Cys) c.5128G>T (p.Gly1710Cys) c.5197G>T (p.Gly1733Cys) c.4825G>T (p.Gly1609Cys) c.4981G>T (p.Gly1661Cys) c.5188G>T (p.Gly1730Cys) c.4489G>T (p.Gly1497Cys) c.5236G>T (p.Gly1746Cys) | ClinVar |
16 | g.3729805C>G | CA394557533 | CREBBP | c.5242G>C (p.Gly1748Arg) c.5128G>C (p.Gly1710Arg) c.5197G>C (p.Gly1733Arg) c.4825G>C (p.Gly1609Arg) c.4981G>C (p.Gly1661Arg) c.5188G>C (p.Gly1730Arg) c.4489G>C (p.Gly1497Arg) c.5236G>C (p.Gly1746Arg) | |
16 | g.3729805C>T | CA394557535 | CREBBP | c.5242G>A (p.Gly1748Ser) c.5128G>A (p.Gly1710Ser) c.5197G>A (p.Gly1733Ser) c.4825G>A (p.Gly1609Ser) c.4981G>A (p.Gly1661Ser) c.5188G>A (p.Gly1730Ser) c.4489G>A (p.Gly1497Ser) c.5236G>A (p.Gly1746Ser) | |
16 | g.3729806C>A | CA276972329 | CREBBP | c.5241G>T (p.Leu1747=) c.5127G>T (p.Leu1709=) c.5196G>T (p.Leu1732=) c.4824G>T (p.Leu1608=) c.4980G>T (p.Leu1660=) c.5187G>T (p.Leu1729=) c.4488G>T (p.Leu1496=) c.5235G>T (p.Leu1745=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729806C= | CA2202916543 | CREBBP | c.5241G= (p.Leu1747=) c.5127G= (p.Leu1709=) c.5196G= (p.Leu1732=) c.4824G= (p.Leu1608=) c.4980G= (p.Leu1660=) c.5187G= (p.Leu1729=) c.4488G= (p.Leu1496=) c.5235G= (p.Leu1745=) | |
16 | g.3729806C>G | CA493394295 | CREBBP | c.5241G>C (p.Leu1747=) c.5127G>C (p.Leu1709=) c.5196G>C (p.Leu1732=) c.4824G>C (p.Leu1608=) c.4980G>C (p.Leu1660=) c.5187G>C (p.Leu1729=) c.4488G>C (p.Leu1496=) c.5235G>C (p.Leu1745=) | dbSNP |
16 | g.3729806C>T | CA493394296 | CREBBP | c.5241G>A (p.Leu1747=) c.5127G>A (p.Leu1709=) c.5196G>A (p.Leu1732=) c.4824G>A (p.Leu1608=) c.4980G>A (p.Leu1660=) c.5187G>A (p.Leu1729=) c.4488G>A (p.Leu1496=) c.5235G>A (p.Leu1745=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729807A>C | CA394557537 | CREBBP | c.5240T>G (p.Leu1747Arg) c.5126T>G (p.Leu1709Arg) c.5195T>G (p.Leu1732Arg) c.4823T>G (p.Leu1608Arg) c.4979T>G (p.Leu1660Arg) c.5186T>G (p.Leu1729Arg) c.4487T>G (p.Leu1496Arg) c.5234T>G (p.Leu1745Arg) | dbSNP |
16 | g.3729807A>G | CA394557539 | CREBBP | c.5240T>C (p.Leu1747Pro) c.5126T>C (p.Leu1709Pro) c.5195T>C (p.Leu1732Pro) c.4823T>C (p.Leu1608Pro) c.4979T>C (p.Leu1660Pro) c.5186T>C (p.Leu1729Pro) c.4487T>C (p.Leu1496Pro) c.5234T>C (p.Leu1745Pro) | dbSNP |
16 | g.3729807A>T | CA394557540 | CREBBP | c.5240T>A (p.Leu1747Gln) c.5126T>A (p.Leu1709Gln) c.5195T>A (p.Leu1732Gln) c.4823T>A (p.Leu1608Gln) c.4979T>A (p.Leu1660Gln) c.5186T>A (p.Leu1729Gln) c.4487T>A (p.Leu1496Gln) c.5234T>A (p.Leu1745Gln) | dbSNP |
16 | g.3729808G>A | CA493394297 | CREBBP | c.5239C>T (p.Leu1747=) c.5125C>T (p.Leu1709=) c.5194C>T (p.Leu1732=) c.4822C>T (p.Leu1608=) c.4978C>T (p.Leu1660=) c.5185C>T (p.Leu1729=) c.4486C>T (p.Leu1496=) c.5233C>T (p.Leu1745=) | dbSNP gnomAD v4 |
16 | g.3729808G>C | CA394557542 | CREBBP | c.5239C>G (p.Leu1747Val) c.5125C>G (p.Leu1709Val) c.5194C>G (p.Leu1732Val) c.4822C>G (p.Leu1608Val) c.4978C>G (p.Leu1660Val) c.5185C>G (p.Leu1729Val) c.4486C>G (p.Leu1496Val) c.5233C>G (p.Leu1745Val) | |
16 | g.3729808G= | CA2202916544 | CREBBP | c.5239C= (p.Leu1747=) c.5125C= (p.Leu1709=) c.5194C= (p.Leu1732=) c.4822C= (p.Leu1608=) c.4978C= (p.Leu1660=) c.5185C= (p.Leu1729=) c.4486C= (p.Leu1496=) c.5233C= (p.Leu1745=) | |
16 | g.3729808G>T | CA394557544 | CREBBP | c.5239C>A (p.Leu1747Met) c.5125C>A (p.Leu1709Met) c.5194C>A (p.Leu1732Met) c.4822C>A (p.Leu1608Met) c.4978C>A (p.Leu1660Met) c.5185C>A (p.Leu1729Met) c.4486C>A (p.Leu1496Met) c.5233C>A (p.Leu1745Met) | gnomAD v4 |
16 | g.3729809C>A | CA493394298 | CREBBP | c.5238G>T (p.Gly1746=) c.5124G>T (p.Gly1708=) c.5193G>T (p.Gly1731=) c.4821G>T (p.Gly1607=) c.4977G>T (p.Gly1659=) c.5184G>T (p.Gly1728=) c.4485G>T (p.Gly1495=) c.5232G>T (p.Gly1744=) | ClinVar dbSNP |
16 | g.3729809C>G | CA493394299 | CREBBP | c.5238G>C (p.Gly1746=) c.5124G>C (p.Gly1708=) c.5193G>C (p.Gly1731=) c.4821G>C (p.Gly1607=) c.4977G>C (p.Gly1659=) c.5184G>C (p.Gly1728=) c.4485G>C (p.Gly1495=) c.5232G>C (p.Gly1744=) | gnomAD v4 |
16 | g.3729809C>T | CA493394300 | CREBBP | c.5238G>A (p.Gly1746=) c.5124G>A (p.Gly1708=) c.5193G>A (p.Gly1731=) c.4821G>A (p.Gly1607=) c.4977G>A (p.Gly1659=) c.5184G>A (p.Gly1728=) c.4485G>A (p.Gly1495=) c.5232G>A (p.Gly1744=) | dbSNP gnomAD v4 |
16 | g.3729813dup | CA2497028996 | CREBBP | c.5238dup (p.Leu1747AlafsTer5) c.5124dup (p.Leu1709AlafsTer5) c.5193dup (p.Leu1732AlafsTer5) c.4821dup (p.Leu1608AlafsTer5) c.4977dup (p.Leu1660AlafsTer5) c.5184dup (p.Leu1729AlafsTer5) c.4485dup (p.Leu1496AlafsTer5) c.5232dup (p.Leu1745AlafsTer5) | |
16 | g.3729813del | CA2631398999 | CREBBP | c.5238del (p.Leu1747TrpfsTer24) c.5124del (p.Leu1709TrpfsTer24) c.5193del (p.Leu1732TrpfsTer24) c.4821del (p.Leu1608TrpfsTer24) c.4977del (p.Leu1660TrpfsTer24) c.5184del (p.Leu1729TrpfsTer24) c.4485del (p.Leu1496TrpfsTer24) c.5232del (p.Leu1745TrpfsTer24) | gnomAD v4 |
16 | g.3729810C>A | CA357158 | CREBBP | c.5237G>T (p.Gly1746Val) c.5123G>T (p.Gly1708Val) c.5192G>T (p.Gly1731Val) c.4820G>T (p.Gly1607Val) c.4976G>T (p.Gly1659Val) c.5183G>T (p.Gly1728Val) c.4484G>T (p.Gly1495Val) c.5231G>T (p.Gly1744Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729810C= | CA2202916545 | CREBBP | c.5237G= (p.Gly1746=) c.5123G= (p.Gly1708=) c.5192G= (p.Gly1731=) c.4820G= (p.Gly1607=) c.4976G= (p.Gly1659=) c.5183G= (p.Gly1728=) c.4484G= (p.Gly1495=) c.5231G= (p.Gly1744=) | |
16 | g.3729810C>G | CA394557549 | CREBBP | c.5237G>C (p.Gly1746Ala) c.5123G>C (p.Gly1708Ala) c.5192G>C (p.Gly1731Ala) c.4820G>C (p.Gly1607Ala) c.4976G>C (p.Gly1659Ala) c.5183G>C (p.Gly1728Ala) c.4484G>C (p.Gly1495Ala) c.5231G>C (p.Gly1744Ala) | dbSNP |
16 | g.3729810C>T | CA394557546 | CREBBP | c.5237G>A (p.Gly1746Glu) c.5123G>A (p.Gly1708Glu) c.5192G>A (p.Gly1731Glu) c.4820G>A (p.Gly1607Glu) c.4976G>A (p.Gly1659Glu) c.5183G>A (p.Gly1728Glu) c.4484G>A (p.Gly1495Glu) c.5231G>A (p.Gly1744Glu) | dbSNP |
16 | g.3729811C>A | CA394557551 | CREBBP | c.5236G>T (p.Gly1746Trp) c.5122G>T (p.Gly1708Trp) c.5191G>T (p.Gly1731Trp) c.4819G>T (p.Gly1607Trp) c.4975G>T (p.Gly1659Trp) c.5182G>T (p.Gly1728Trp) c.4483G>T (p.Gly1495Trp) c.5230G>T (p.Gly1744Trp) | gnomAD v4 |
16 | g.3729811C= | CA2202916546 | CREBBP | c.5236G= (p.Gly1746=) c.5122G= (p.Gly1708=) c.5191G= (p.Gly1731=) c.4819G= (p.Gly1607=) c.4975G= (p.Gly1659=) c.5182G= (p.Gly1728=) c.4483G= (p.Gly1495=) c.5230G= (p.Gly1744=) | |
16 | g.3729811C>G | CA394557553 | CREBBP | c.5236G>C (p.Gly1746Arg) c.5122G>C (p.Gly1708Arg) c.5191G>C (p.Gly1731Arg) c.4819G>C (p.Gly1607Arg) c.4975G>C (p.Gly1659Arg) c.5182G>C (p.Gly1728Arg) c.4483G>C (p.Gly1495Arg) c.5230G>C (p.Gly1744Arg) | |
16 | g.3729811C>T | CA394557555 | CREBBP | c.5236G>A (p.Gly1746Arg) c.5122G>A (p.Gly1708Arg) c.5191G>A (p.Gly1731Arg) c.4819G>A (p.Gly1607Arg) c.4975G>A (p.Gly1659Arg) c.5182G>A (p.Gly1728Arg) c.4483G>A (p.Gly1495Arg) c.5230G>A (p.Gly1744Arg) | dbSNP |
16 | g.3729812C>A | CA394557558 | CREBBP | c.5235G>T (p.Trp1745Cys) c.5121G>T (p.Trp1707Cys) c.5190G>T (p.Trp1730Cys) c.4818G>T (p.Trp1606Cys) c.4974G>T (p.Trp1658Cys) c.5181G>T (p.Trp1727Cys) c.4482G>T (p.Trp1494Cys) c.5229G>T (p.Trp1743Cys) | dbSNP |
16 | g.3729812C>G | CA394557559 | CREBBP | c.5235G>C (p.Trp1745Cys) c.5121G>C (p.Trp1707Cys) c.5190G>C (p.Trp1730Cys) c.4818G>C (p.Trp1606Cys) c.4974G>C (p.Trp1658Cys) c.5181G>C (p.Trp1727Cys) c.4482G>C (p.Trp1494Cys) c.5229G>C (p.Trp1743Cys) | dbSNP |
16 | g.3729812C>T | CA394557561 | CREBBP | c.5235G>A (p.Trp1745Ter) c.5121G>A (p.Trp1707Ter) c.5190G>A (p.Trp1730Ter) c.4818G>A (p.Trp1606Ter) c.4974G>A (p.Trp1658Ter) c.5181G>A (p.Trp1727Ter) c.4482G>A (p.Trp1494Ter) c.5229G>A (p.Trp1743Ter) | dbSNP |
16 | g.3729813C>A | CA394557563 | CREBBP | c.5234G>T (p.Trp1745Leu) c.5120G>T (p.Trp1707Leu) c.5189G>T (p.Trp1730Leu) c.4817G>T (p.Trp1606Leu) c.4973G>T (p.Trp1658Leu) c.5180G>T (p.Trp1727Leu) c.4481G>T (p.Trp1494Leu) c.5228G>T (p.Trp1743Leu) | |
16 | g.3729813C>G | CA394557564 | CREBBP | c.5234G>C (p.Trp1745Ser) c.5120G>C (p.Trp1707Ser) c.5189G>C (p.Trp1730Ser) c.4817G>C (p.Trp1606Ser) c.4973G>C (p.Trp1658Ser) c.5180G>C (p.Trp1727Ser) c.4481G>C (p.Trp1494Ser) c.5228G>C (p.Trp1743Ser) | ClinVar |
16 | g.3729813C>T | CA394557566 | CREBBP | c.5234G>A (p.Trp1745Ter) c.5120G>A (p.Trp1707Ter) c.5189G>A (p.Trp1730Ter) c.4817G>A (p.Trp1606Ter) c.4973G>A (p.Trp1658Ter) c.5180G>A (p.Trp1727Ter) c.4481G>A (p.Trp1494Ter) c.5228G>A (p.Trp1743Ter) | COSMIC |
16 | g.3729814A>C | CA394557568 | CREBBP | c.5233T>G (p.Trp1745Gly) c.5119T>G (p.Trp1707Gly) c.5188T>G (p.Trp1730Gly) c.4816T>G (p.Trp1606Gly) c.4972T>G (p.Trp1658Gly) c.5179T>G (p.Trp1727Gly) c.4480T>G (p.Trp1494Gly) c.5227T>G (p.Trp1743Gly) | dbSNP |
16 | g.3729814A>G | CA394557569 | CREBBP | c.5233T>C (p.Trp1745Arg) c.5119T>C (p.Trp1707Arg) c.5188T>C (p.Trp1730Arg) c.4816T>C (p.Trp1606Arg) c.4972T>C (p.Trp1658Arg) c.5179T>C (p.Trp1727Arg) c.4480T>C (p.Trp1494Arg) c.5227T>C (p.Trp1743Arg) | |
16 | g.3729814A>T | CA394557571 | CREBBP | c.5233T>A (p.Trp1745Arg) c.5119T>A (p.Trp1707Arg) c.5188T>A (p.Trp1730Arg) c.4816T>A (p.Trp1606Arg) c.4972T>A (p.Trp1658Arg) c.5179T>A (p.Trp1727Arg) c.4480T>A (p.Trp1494Arg) c.5227T>A (p.Trp1743Arg) | dbSNP |
16 | g.3729815C>A | CA394557575 | CREBBP | c.5232G>T (p.Lys1744Asn) c.5118G>T (p.Lys1706Asn) c.5187G>T (p.Lys1729Asn) c.4815G>T (p.Lys1605Asn) c.4971G>T (p.Lys1657Asn) c.5178G>T (p.Lys1726Asn) c.4479G>T (p.Lys1493Asn) c.5226G>T (p.Lys1742Asn) | dbSNP |
16 | g.3729815C= | CA2202916547 | CREBBP | c.5232G= (p.Lys1744=) c.5118G= (p.Lys1706=) c.5187G= (p.Lys1729=) c.4815G= (p.Lys1605=) c.4971G= (p.Lys1657=) c.5178G= (p.Lys1726=) c.4479G= (p.Lys1493=) c.5226G= (p.Lys1742=) | |
16 | g.3729815C>G | CA394557573 | CREBBP | c.5232G>C (p.Lys1744Asn) c.5118G>C (p.Lys1706Asn) c.5187G>C (p.Lys1729Asn) c.4815G>C (p.Lys1605Asn) c.4971G>C (p.Lys1657Asn) c.5178G>C (p.Lys1726Asn) c.4479G>C (p.Lys1493Asn) c.5226G>C (p.Lys1742Asn) | dbSNP |
16 | g.3729815C>T | CA493394303 | CREBBP | c.5232G>A (p.Lys1744=) c.5118G>A (p.Lys1706=) c.5187G>A (p.Lys1729=) c.4815G>A (p.Lys1605=) c.4971G>A (p.Lys1657=) c.5178G>A (p.Lys1726=) c.4479G>A (p.Lys1493=) c.5226G>A (p.Lys1742=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729816T>A | CA394557577 | CREBBP | c.5231A>T (p.Lys1744Met) c.5117A>T (p.Lys1706Met) c.5186A>T (p.Lys1729Met) c.4814A>T (p.Lys1605Met) c.4970A>T (p.Lys1657Met) c.5177A>T (p.Lys1726Met) c.4478A>T (p.Lys1493Met) c.5225A>T (p.Lys1742Met) | dbSNP |
16 | g.3729816T>C | CA394557579 | CREBBP | c.5231A>G (p.Lys1744Arg) c.5117A>G (p.Lys1706Arg) c.5186A>G (p.Lys1729Arg) c.4814A>G (p.Lys1605Arg) c.4970A>G (p.Lys1657Arg) c.5177A>G (p.Lys1726Arg) c.4478A>G (p.Lys1493Arg) c.5225A>G (p.Lys1742Arg) | dbSNP |
16 | g.3729816T>G | CA394557580 | CREBBP | c.5231A>C (p.Lys1744Thr) c.5117A>C (p.Lys1706Thr) c.5186A>C (p.Lys1729Thr) c.4814A>C (p.Lys1605Thr) c.4970A>C (p.Lys1657Thr) c.5177A>C (p.Lys1726Thr) c.4478A>C (p.Lys1493Thr) c.5225A>C (p.Lys1742Thr) | |
16 | g.3729817T>A | CA394557583 | CREBBP | c.5230A>T (p.Lys1744Ter) c.5116A>T (p.Lys1706Ter) c.5185A>T (p.Lys1729Ter) c.4813A>T (p.Lys1605Ter) c.4969A>T (p.Lys1657Ter) c.5176A>T (p.Lys1726Ter) c.4477A>T (p.Lys1493Ter) c.5224A>T (p.Lys1742Ter) | |
16 | g.3729817T>C | CA394557584 | CREBBP | c.5230A>G (p.Lys1744Glu) c.5116A>G (p.Lys1706Glu) c.5185A>G (p.Lys1729Glu) c.4813A>G (p.Lys1605Glu) c.4969A>G (p.Lys1657Glu) c.5176A>G (p.Lys1726Glu) c.4477A>G (p.Lys1493Glu) c.5224A>G (p.Lys1742Glu) | |
16 | g.3729817T>G | CA394557585 | CREBBP | c.5230A>C (p.Lys1744Gln) c.5116A>C (p.Lys1706Gln) c.5185A>C (p.Lys1729Gln) c.4813A>C (p.Lys1605Gln) c.4969A>C (p.Lys1657Gln) c.5176A>C (p.Lys1726Gln) c.4477A>C (p.Lys1493Gln) c.5224A>C (p.Lys1742Gln) | |
16 | g.3729818C>A | CA493394305 | CREBBP | c.5229G>T (p.Val1743=) c.5115G>T (p.Val1705=) c.5184G>T (p.Val1728=) c.4812G>T (p.Val1604=) c.4968G>T (p.Val1656=) c.5175G>T (p.Val1725=) c.4476G>T (p.Val1492=) c.5223G>T (p.Val1741=) | |
16 | g.3729818C>G | CA493394306 | CREBBP | c.5229G>C (p.Val1743=) c.5115G>C (p.Val1705=) c.5184G>C (p.Val1728=) c.4812G>C (p.Val1604=) c.4968G>C (p.Val1656=) c.5175G>C (p.Val1725=) c.4476G>C (p.Val1492=) c.5223G>C (p.Val1741=) | dbSNP |
16 | g.3729818C>T | CA493394307 | CREBBP | c.5229G>A (p.Val1743=) c.5115G>A (p.Val1705=) c.5184G>A (p.Val1728=) c.4812G>A (p.Val1604=) c.4968G>A (p.Val1656=) c.5175G>A (p.Val1725=) c.4476G>A (p.Val1492=) c.5223G>A (p.Val1741=) | dbSNP |
16 | g.3729819A>C | CA394557587 | CREBBP | c.5228T>G (p.Val1743Gly) c.5114T>G (p.Val1705Gly) c.5183T>G (p.Val1728Gly) c.4811T>G (p.Val1604Gly) c.4967T>G (p.Val1656Gly) c.5174T>G (p.Val1725Gly) c.4475T>G (p.Val1492Gly) c.5222T>G (p.Val1741Gly) | |
16 | g.3729819A>G | CA394557588 | CREBBP | c.5228T>C (p.Val1743Ala) c.5114T>C (p.Val1705Ala) c.5183T>C (p.Val1728Ala) c.4811T>C (p.Val1604Ala) c.4967T>C (p.Val1656Ala) c.5174T>C (p.Val1725Ala) c.4475T>C (p.Val1492Ala) c.5222T>C (p.Val1741Ala) | |
16 | g.3729819A>T | CA394557590 | CREBBP | c.5228T>A (p.Val1743Glu) c.5114T>A (p.Val1705Glu) c.5183T>A (p.Val1728Glu) c.4811T>A (p.Val1604Glu) c.4967T>A (p.Val1656Glu) c.5174T>A (p.Val1725Glu) c.4475T>A (p.Val1492Glu) c.5222T>A (p.Val1741Glu) | |
16 | g.3729820C>A | CA394557592 | CREBBP | c.5227G>T (p.Val1743Leu) c.5113G>T (p.Val1705Leu) c.5182G>T (p.Val1728Leu) c.4810G>T (p.Val1604Leu) c.4966G>T (p.Val1656Leu) c.5173G>T (p.Val1725Leu) c.4474G>T (p.Val1492Leu) c.5221G>T (p.Val1741Leu) | |
16 | g.3729820C>G | CA394557594 | CREBBP | c.5227G>C (p.Val1743Leu) c.5113G>C (p.Val1705Leu) c.5182G>C (p.Val1728Leu) c.4810G>C (p.Val1604Leu) c.4966G>C (p.Val1656Leu) c.5173G>C (p.Val1725Leu) c.4474G>C (p.Val1492Leu) c.5221G>C (p.Val1741Leu) | |
16 | g.3729820C>T | CA394557596 | CREBBP | c.5227G>A (p.Val1743Met) c.5113G>A (p.Val1705Met) c.5182G>A (p.Val1728Met) c.4810G>A (p.Val1604Met) c.4966G>A (p.Val1656Met) c.5173G>A (p.Val1725Met) c.4474G>A (p.Val1492Met) c.5221G>A (p.Val1741Met) | gnomAD v4 |
16 | g.3729821C>A | CA394557600 | CREBBP | c.5226G>T (p.Met1742Ile) c.5112G>T (p.Met1704Ile) c.5181G>T (p.Met1727Ile) c.4809G>T (p.Met1603Ile) c.4965G>T (p.Met1655Ile) c.5172G>T (p.Met1724Ile) c.4473G>T (p.Met1491Ile) c.5220G>T (p.Met1740Ile) | dbSNP |
16 | g.3729821C>G | CA394557602 | CREBBP | c.5226G>C (p.Met1742Ile) c.5112G>C (p.Met1704Ile) c.5181G>C (p.Met1727Ile) c.4809G>C (p.Met1603Ile) c.4965G>C (p.Met1655Ile) c.5172G>C (p.Met1724Ile) c.4473G>C (p.Met1491Ile) c.5220G>C (p.Met1740Ile) | dbSNP |
16 | g.3729821C>T | CA394557598 | CREBBP | c.5226G>A (p.Met1742Ile) c.5112G>A (p.Met1704Ile) c.5181G>A (p.Met1727Ile) c.4809G>A (p.Met1603Ile) c.4965G>A (p.Met1655Ile) c.5172G>A (p.Met1724Ile) c.4473G>A (p.Met1491Ile) c.5220G>A (p.Met1740Ile) | dbSNP |
16 | g.3729822A>C | CA394557604 | CREBBP | c.5225T>G (p.Met1742Arg) c.5111T>G (p.Met1704Arg) c.5180T>G (p.Met1727Arg) c.4808T>G (p.Met1603Arg) c.4964T>G (p.Met1655Arg) c.5171T>G (p.Met1724Arg) c.4472T>G (p.Met1491Arg) c.5219T>G (p.Met1740Arg) | |
16 | g.3729822A>G | CA394557606 | CREBBP | c.5225T>C (p.Met1742Thr) c.5111T>C (p.Met1704Thr) c.5180T>C (p.Met1727Thr) c.4808T>C (p.Met1603Thr) c.4964T>C (p.Met1655Thr) c.5171T>C (p.Met1724Thr) c.4472T>C (p.Met1491Thr) c.5219T>C (p.Met1740Thr) | |
16 | g.3729822A>T | CA394557608 | CREBBP | c.5225T>A (p.Met1742Lys) c.5111T>A (p.Met1704Lys) c.5180T>A (p.Met1727Lys) c.4808T>A (p.Met1603Lys) c.4964T>A (p.Met1655Lys) c.5171T>A (p.Met1724Lys) c.4472T>A (p.Met1491Lys) c.5219T>A (p.Met1740Lys) | dbSNP |
16 | g.3729823T>A | CA394557610 | CREBBP | c.5224A>T (p.Met1742Leu) c.5110A>T (p.Met1704Leu) c.5179A>T (p.Met1727Leu) c.4807A>T (p.Met1603Leu) c.4963A>T (p.Met1655Leu) c.5170A>T (p.Met1724Leu) c.4471A>T (p.Met1491Leu) c.5218A>T (p.Met1740Leu) | dbSNP |
16 | g.3729823T>C | CA394557611 | CREBBP | c.5224A>G (p.Met1742Val) c.5110A>G (p.Met1704Val) c.5179A>G (p.Met1727Val) c.4807A>G (p.Met1603Val) c.4963A>G (p.Met1655Val) c.5170A>G (p.Met1724Val) c.4471A>G (p.Met1491Val) c.5218A>G (p.Met1740Val) | ClinVar |
16 | g.3729823T>G | CA394557612 | CREBBP | c.5224A>C (p.Met1742Leu) c.5110A>C (p.Met1704Leu) c.5179A>C (p.Met1727Leu) c.4807A>C (p.Met1603Leu) c.4963A>C (p.Met1655Leu) c.5170A>C (p.Met1724Leu) c.4471A>C (p.Met1491Leu) c.5218A>C (p.Met1740Leu) | |
16 | g.3729824C>A | CA394557614 | CREBBP | c.5223G>T (p.Lys1741Asn) c.5109G>T (p.Lys1703Asn) c.5178G>T (p.Lys1726Asn) c.4806G>T (p.Lys1602Asn) c.4962G>T (p.Lys1654Asn) c.5169G>T (p.Lys1723Asn) c.4470G>T (p.Lys1490Asn) c.5217G>T (p.Lys1739Asn) | |
16 | g.3729824C= | CA2202916548 | CREBBP | c.5223G= (p.Lys1741=) c.5109G= (p.Lys1703=) c.5178G= (p.Lys1726=) c.4806G= (p.Lys1602=) c.4962G= (p.Lys1654=) c.5169G= (p.Lys1723=) c.4470G= (p.Lys1490=) c.5217G= (p.Lys1739=) | |
16 | g.3729824C>G | CA7869305 | CREBBP | c.5223G>C (p.Lys1741Asn) c.5109G>C (p.Lys1703Asn) c.5178G>C (p.Lys1726Asn) c.4806G>C (p.Lys1602Asn) c.4962G>C (p.Lys1654Asn) c.5169G>C (p.Lys1723Asn) c.4470G>C (p.Lys1490Asn) c.5217G>C (p.Lys1739Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729824C>T | CA493394312 | CREBBP | c.5223G>A (p.Lys1741=) c.5109G>A (p.Lys1703=) c.5178G>A (p.Lys1726=) c.4806G>A (p.Lys1602=) c.4962G>A (p.Lys1654=) c.5169G>A (p.Lys1723=) c.4470G>A (p.Lys1490=) c.5217G>A (p.Lys1739=) | |
16 | g.3729825T>A | CA394557617 | CREBBP | c.5222A>T (p.Lys1741Met) c.5108A>T (p.Lys1703Met) c.5177A>T (p.Lys1726Met) c.4805A>T (p.Lys1602Met) c.4961A>T (p.Lys1654Met) c.5168A>T (p.Lys1723Met) c.4469A>T (p.Lys1490Met) c.5216A>T (p.Lys1739Met) | dbSNP |
16 | g.3729825T>C | CA394557619 | CREBBP | c.5222A>G (p.Lys1741Arg) c.5108A>G (p.Lys1703Arg) c.5177A>G (p.Lys1726Arg) c.4805A>G (p.Lys1602Arg) c.4961A>G (p.Lys1654Arg) c.5168A>G (p.Lys1723Arg) c.4469A>G (p.Lys1490Arg) c.5216A>G (p.Lys1739Arg) | dbSNP |
16 | g.3729825T>G | CA394557621 | CREBBP | c.5222A>C (p.Lys1741Thr) c.5108A>C (p.Lys1703Thr) c.5177A>C (p.Lys1726Thr) c.4805A>C (p.Lys1602Thr) c.4961A>C (p.Lys1654Thr) c.5168A>C (p.Lys1723Thr) c.4469A>C (p.Lys1490Thr) c.5216A>C (p.Lys1739Thr) | |
16 | g.3729826T>A | CA394557623 | CREBBP | c.5221A>T (p.Lys1741Ter) c.5107A>T (p.Lys1703Ter) c.5176A>T (p.Lys1726Ter) c.4804A>T (p.Lys1602Ter) c.4960A>T (p.Lys1654Ter) c.5167A>T (p.Lys1723Ter) c.4468A>T (p.Lys1490Ter) c.5215A>T (p.Lys1739Ter) | dbSNP |
16 | g.3729826T>C | CA276972337 | CREBBP | c.5221A>G (p.Lys1741Glu) c.5107A>G (p.Lys1703Glu) c.5176A>G (p.Lys1726Glu) c.4804A>G (p.Lys1602Glu) c.4960A>G (p.Lys1654Glu) c.5167A>G (p.Lys1723Glu) c.4468A>G (p.Lys1490Glu) c.5215A>G (p.Lys1739Glu) | dbSNP |
16 | g.3729826T>G | CA394557625 | CREBBP | c.5221A>C (p.Lys1741Gln) c.5107A>C (p.Lys1703Gln) c.5176A>C (p.Lys1726Gln) c.4804A>C (p.Lys1602Gln) c.4960A>C (p.Lys1654Gln) c.5167A>C (p.Lys1723Gln) c.4468A>C (p.Lys1490Gln) c.5215A>C (p.Lys1739Gln) | |
16 | g.3729826T= | CA2202916549 | CREBBP | c.5221A= (p.Lys1741=) c.5107A= (p.Lys1703=) c.5176A= (p.Lys1726=) c.4804A= (p.Lys1602=) c.4960A= (p.Lys1654=) c.5167A= (p.Lys1723=) c.4468A= (p.Lys1490=) c.5215A= (p.Lys1739=) | |
16 | g.3729827A>C | CA394557629 | CREBBP | c.5220T>G (p.His1740Gln) c.5106T>G (p.His1702Gln) c.5175T>G (p.His1725Gln) c.4803T>G (p.His1601Gln) c.4959T>G (p.His1653Gln) c.5166T>G (p.His1722Gln) c.4467T>G (p.His1489Gln) c.5214T>G (p.His1738Gln) | dbSNP |
16 | g.3729827A>G | CA493394315 | CREBBP | c.5220T>C (p.His1740=) c.5106T>C (p.His1702=) c.5175T>C (p.His1725=) c.4803T>C (p.His1601=) c.4959T>C (p.His1653=) c.5166T>C (p.His1722=) c.4467T>C (p.His1489=) c.5214T>C (p.His1738=) | |
16 | g.3729827A>T | CA394557627 | CREBBP | c.5220T>A (p.His1740Gln) c.5106T>A (p.His1702Gln) c.5175T>A (p.His1725Gln) c.4803T>A (p.His1601Gln) c.4959T>A (p.His1653Gln) c.5166T>A (p.His1722Gln) c.4467T>A (p.His1489Gln) c.5214T>A (p.His1738Gln) | dbSNP |
16 | g.3729828T>A | CA394557631 | CREBBP | c.5219A>T (p.His1740Leu) c.5105A>T (p.His1702Leu) c.5174A>T (p.His1725Leu) c.4802A>T (p.His1601Leu) c.4958A>T (p.His1653Leu) c.5165A>T (p.His1722Leu) c.4466A>T (p.His1489Leu) c.5213A>T (p.His1738Leu) | |
16 | g.3729828T>C | CA394557633 | CREBBP | c.5219A>G (p.His1740Arg) c.5105A>G (p.His1702Arg) c.5174A>G (p.His1725Arg) c.4802A>G (p.His1601Arg) c.4958A>G (p.His1653Arg) c.5165A>G (p.His1722Arg) c.4466A>G (p.His1489Arg) c.5213A>G (p.His1738Arg) | ClinVar dbSNP COSMIC |
16 | g.3729828T>G | CA394557635 | CREBBP | c.5219A>C (p.His1740Pro) c.5105A>C (p.His1702Pro) c.5174A>C (p.His1725Pro) c.4802A>C (p.His1601Pro) c.4958A>C (p.His1653Pro) c.5165A>C (p.His1722Pro) c.4466A>C (p.His1489Pro) c.5213A>C (p.His1738Pro) | |
16 | g.3729828T= | CA2202916550 | CREBBP | c.5219A= (p.His1740=) c.5105A= (p.His1702=) c.5174A= (p.His1725=) c.4802A= (p.His1601=) c.4958A= (p.His1653=) c.5165A= (p.His1722=) c.4466A= (p.His1489=) c.5213A= (p.His1738=) | |
16 | g.3729829G>A | CA394557637 | CREBBP | c.5218C>T (p.His1740Tyr) c.5104C>T (p.His1702Tyr) c.5173C>T (p.His1725Tyr) c.4801C>T (p.His1601Tyr) c.4957C>T (p.His1653Tyr) c.5164C>T (p.His1722Tyr) c.4465C>T (p.His1489Tyr) c.5212C>T (p.His1738Tyr) | gnomAD v4 |
16 | g.3729829G>C | CA394557638 | CREBBP | c.5218C>G (p.His1740Asp) c.5104C>G (p.His1702Asp) c.5173C>G (p.His1725Asp) c.4801C>G (p.His1601Asp) c.4957C>G (p.His1653Asp) c.5164C>G (p.His1722Asp) c.4465C>G (p.His1489Asp) c.5212C>G (p.His1738Asp) | |
16 | g.3729829G= | CA2202916551 | CREBBP | c.5218C= (p.His1740=) c.5104C= (p.His1702=) c.5173C= (p.His1725=) c.4801C= (p.His1601=) c.4957C= (p.His1653=) c.5164C= (p.His1722=) c.4465C= (p.His1489=) c.5212C= (p.His1738=) | |
16 | g.3729829G>T | CA394557640 | CREBBP | c.5218C>A (p.His1740Asn) c.5104C>A (p.His1702Asn) c.5173C>A (p.His1725Asn) c.4801C>A (p.His1601Asn) c.4957C>A (p.His1653Asn) c.5164C>A (p.His1722Asn) c.4465C>A (p.His1489Asn) c.5212C>A (p.His1738Asn) | ClinVar dbSNP gnomAD v4 |
16 | g.3729830G>A | CA493394319 | CREBBP | c.5217C>T (p.Ala1739=) c.5103C>T (p.Ala1701=) c.5172C>T (p.Ala1724=) c.4800C>T (p.Ala1600=) c.4956C>T (p.Ala1652=) c.5163C>T (p.Ala1721=) c.4464C>T (p.Ala1488=) c.5211C>T (p.Ala1737=) | dbSNP |
16 | g.3729830G>C | CA493394318 | CREBBP | c.5217C>G (p.Ala1739=) c.5103C>G (p.Ala1701=) c.5172C>G (p.Ala1724=) c.4800C>G (p.Ala1600=) c.4956C>G (p.Ala1652=) c.5163C>G (p.Ala1721=) c.4464C>G (p.Ala1488=) c.5211C>G (p.Ala1737=) | dbSNP gnomAD v4 |
16 | g.3729830G= | CA2202916552 | CREBBP | c.5217C= (p.Ala1739=) c.5103C= (p.Ala1701=) c.5172C= (p.Ala1724=) c.4800C= (p.Ala1600=) c.4956C= (p.Ala1652=) c.5163C= (p.Ala1721=) c.4464C= (p.Ala1488=) c.5211C= (p.Ala1737=) | |
16 | g.3729830G>T | CA493394317 | CREBBP | c.5217C>A (p.Ala1739=) c.5103C>A (p.Ala1701=) c.5172C>A (p.Ala1724=) c.4800C>A (p.Ala1600=) c.4956C>A (p.Ala1652=) c.5163C>A (p.Ala1721=) c.4464C>A (p.Ala1488=) c.5211C>A (p.Ala1737=) | dbSNP |
16 | g.3729831G>A | CA394557645 | CREBBP | c.5216C>T (p.Ala1739Val) c.5102C>T (p.Ala1701Val) c.5171C>T (p.Ala1724Val) c.4799C>T (p.Ala1600Val) c.4955C>T (p.Ala1652Val) c.5162C>T (p.Ala1721Val) c.4463C>T (p.Ala1488Val) c.5210C>T (p.Ala1737Val) | dbSNP gnomAD v4 |
16 | g.3729831G>C | CA7869306 | CREBBP | c.5216C>G (p.Ala1739Gly) c.5102C>G (p.Ala1701Gly) c.5171C>G (p.Ala1724Gly) c.4799C>G (p.Ala1600Gly) c.4955C>G (p.Ala1652Gly) c.5162C>G (p.Ala1721Gly) c.4463C>G (p.Ala1488Gly) c.5210C>G (p.Ala1737Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729831G= | CA2202916553 | CREBBP | c.5216C= (p.Ala1739=) c.5102C= (p.Ala1701=) c.5171C= (p.Ala1724=) c.4799C= (p.Ala1600=) c.4955C= (p.Ala1652=) c.5162C= (p.Ala1721=) c.4463C= (p.Ala1488=) c.5210C= (p.Ala1737=) | |
16 | g.3729831G>T | CA394557642 | CREBBP | c.5216C>A (p.Ala1739Asp) c.5102C>A (p.Ala1701Asp) c.5171C>A (p.Ala1724Asp) c.4799C>A (p.Ala1600Asp) c.4955C>A (p.Ala1652Asp) c.5162C>A (p.Ala1721Asp) c.4463C>A (p.Ala1488Asp) c.5210C>A (p.Ala1737Asp) | dbSNP gnomAD v4 |
16 | g.3729832C>A | CA394557647 | CREBBP | c.5215G>T (p.Ala1739Ser) c.5101G>T (p.Ala1701Ser) c.5170G>T (p.Ala1724Ser) c.4798G>T (p.Ala1600Ser) c.4954G>T (p.Ala1652Ser) c.5161G>T (p.Ala1721Ser) c.4462G>T (p.Ala1488Ser) c.5209G>T (p.Ala1737Ser) | dbSNP |
16 | g.3729832C= | CA2202916554 | CREBBP | c.5215G= (p.Ala1739=) c.5101G= (p.Ala1701=) c.5170G= (p.Ala1724=) c.4798G= (p.Ala1600=) c.4954G= (p.Ala1652=) c.5161G= (p.Ala1721=) c.4462G= (p.Ala1488=) c.5209G= (p.Ala1737=) | |
16 | g.3729832C>G | CA394557649 | CREBBP | c.5215G>C (p.Ala1739Pro) c.5101G>C (p.Ala1701Pro) c.5170G>C (p.Ala1724Pro) c.4798G>C (p.Ala1600Pro) c.4954G>C (p.Ala1652Pro) c.5161G>C (p.Ala1721Pro) c.4462G>C (p.Ala1488Pro) c.5209G>C (p.Ala1737Pro) | dbSNP |
16 | g.3729832C>T | CA394557651 | CREBBP | c.5215G>A (p.Ala1739Thr) c.5101G>A (p.Ala1701Thr) c.5170G>A (p.Ala1724Thr) c.4798G>A (p.Ala1600Thr) c.4954G>A (p.Ala1652Thr) c.5161G>A (p.Ala1721Thr) c.4462G>A (p.Ala1488Thr) c.5209G>A (p.Ala1737Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729833A= | CA2202916555 | CREBBP | c.5214T= (p.His1738=) c.5100T= (p.His1700=) c.5169T= (p.His1723=) c.4797T= (p.His1599=) c.4953T= (p.His1651=) c.5160T= (p.His1720=) c.4461T= (p.His1487=) c.5208T= (p.His1736=) | |
16 | g.3729833A>C | CA394557652 | CREBBP | c.5214T>G (p.His1738Gln) c.5100T>G (p.His1700Gln) c.5169T>G (p.His1723Gln) c.4797T>G (p.His1599Gln) c.4953T>G (p.His1651Gln) c.5160T>G (p.His1720Gln) c.4461T>G (p.His1487Gln) c.5208T>G (p.His1736Gln) | |
16 | g.3729833A>G | CA7869307 | CREBBP | c.5214T>C (p.His1738=) c.5100T>C (p.His1700=) c.5169T>C (p.His1723=) c.4797T>C (p.His1599=) c.4953T>C (p.His1651=) c.5160T>C (p.His1720=) c.4461T>C (p.His1487=) c.5208T>C (p.His1736=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729833A>T | CA394557654 | CREBBP | c.5214T>A (p.His1738Gln) c.5100T>A (p.His1700Gln) c.5169T>A (p.His1723Gln) c.4797T>A (p.His1599Gln) c.4953T>A (p.His1651Gln) c.5160T>A (p.His1720Gln) c.4461T>A (p.His1487Gln) c.5208T>A (p.His1736Gln) | dbSNP |
16 | g.3729834T>A | CA394557660 | CREBBP | c.5213A>T (p.His1738Leu) c.5099A>T (p.His1700Leu) c.5168A>T (p.His1723Leu) c.4796A>T (p.His1599Leu) c.4952A>T (p.His1651Leu) c.5159A>T (p.His1720Leu) c.4460A>T (p.His1487Leu) c.5207A>T (p.His1736Leu) | |
16 | g.3729834T>C | CA394557656 | CREBBP | c.5213A>G (p.His1738Arg) c.5099A>G (p.His1700Arg) c.5168A>G (p.His1723Arg) c.4796A>G (p.His1599Arg) c.4952A>G (p.His1651Arg) c.5159A>G (p.His1720Arg) c.4460A>G (p.His1487Arg) c.5207A>G (p.His1736Arg) | |
16 | g.3729834T>G | CA394557658 | CREBBP | c.5213A>C (p.His1738Pro) c.5099A>C (p.His1700Pro) c.5168A>C (p.His1723Pro) c.4796A>C (p.His1599Pro) c.4952A>C (p.His1651Pro) c.5159A>C (p.His1720Pro) c.4460A>C (p.His1487Pro) c.5207A>C (p.His1736Pro) | |
16 | g.3729835G>A | CA394557662 | CREBBP | c.5212C>T (p.His1738Tyr) c.5098C>T (p.His1700Tyr) c.5167C>T (p.His1723Tyr) c.4795C>T (p.His1599Tyr) c.4951C>T (p.His1651Tyr) c.5158C>T (p.His1720Tyr) c.4459C>T (p.His1487Tyr) c.5206C>T (p.His1736Tyr) | dbSNP |
16 | g.3729835G>C | CA394557663 | CREBBP | c.5212C>G (p.His1738Asp) c.5098C>G (p.His1700Asp) c.5167C>G (p.His1723Asp) c.4795C>G (p.His1599Asp) c.4951C>G (p.His1651Asp) c.5158C>G (p.His1720Asp) c.4459C>G (p.His1487Asp) c.5206C>G (p.His1736Asp) | dbSNP |
16 | g.3729835G>T | CA394557664 | CREBBP | c.5212C>A (p.His1738Asn) c.5098C>A (p.His1700Asn) c.5167C>A (p.His1723Asn) c.4795C>A (p.His1599Asn) c.4951C>A (p.His1651Asn) c.5158C>A (p.His1720Asn) c.4459C>A (p.His1487Asn) c.5206C>A (p.His1736Asn) | |
16 | g.3729836G>A | CA493394323 | CREBBP | c.5211C>T (p.Ser1737=) c.5097C>T (p.Ser1699=) c.5166C>T (p.Ser1722=) c.4794C>T (p.Ser1598=) c.4950C>T (p.Ser1650=) c.5157C>T (p.Ser1719=) c.4458C>T (p.Ser1486=) c.5205C>T (p.Ser1735=) | dbSNP gnomAD v4 |
16 | g.3729836G>C | CA394557666 | CREBBP | c.5211C>G (p.Ser1737Arg) c.5097C>G (p.Ser1699Arg) c.5166C>G (p.Ser1722Arg) c.4794C>G (p.Ser1598Arg) c.4950C>G (p.Ser1650Arg) c.5157C>G (p.Ser1719Arg) c.4458C>G (p.Ser1486Arg) c.5205C>G (p.Ser1735Arg) | dbSNP gnomAD v4 |
16 | g.3729836G>T | CA394557668 | CREBBP | c.5211C>A (p.Ser1737Arg) c.5097C>A (p.Ser1699Arg) c.5166C>A (p.Ser1722Arg) c.4794C>A (p.Ser1598Arg) c.4950C>A (p.Ser1650Arg) c.5157C>A (p.Ser1719Arg) c.4458C>A (p.Ser1486Arg) c.5205C>A (p.Ser1735Arg) | dbSNP gnomAD v4 |
16 | g.3729837C>A | CA394557670 | CREBBP | c.5210G>T (p.Ser1737Ile) c.5096G>T (p.Ser1699Ile) c.5165G>T (p.Ser1722Ile) c.4793G>T (p.Ser1598Ile) c.4949G>T (p.Ser1650Ile) c.5156G>T (p.Ser1719Ile) c.4457G>T (p.Ser1486Ile) c.5204G>T (p.Ser1735Ile) | |
16 | g.3729837C= | CA2202916556 | CREBBP | c.5210G= (p.Ser1737=) c.5096G= (p.Ser1699=) c.5165G= (p.Ser1722=) c.4793G= (p.Ser1598=) c.4949G= (p.Ser1650=) c.5156G= (p.Ser1719=) c.4457G= (p.Ser1486=) c.5204G= (p.Ser1735=) | |
16 | g.3729837C>G | CA394557672 | CREBBP | c.5210G>C (p.Ser1737Thr) c.5096G>C (p.Ser1699Thr) c.5165G>C (p.Ser1722Thr) c.4793G>C (p.Ser1598Thr) c.4949G>C (p.Ser1650Thr) c.5156G>C (p.Ser1719Thr) c.4457G>C (p.Ser1486Thr) c.5204G>C (p.Ser1735Thr) | dbSNP |
16 | g.3729837C>T | CA7869308 | CREBBP | c.5210G>A (p.Ser1737Asn) c.5096G>A (p.Ser1699Asn) c.5165G>A (p.Ser1722Asn) c.4793G>A (p.Ser1598Asn) c.4949G>A (p.Ser1650Asn) c.5156G>A (p.Ser1719Asn) c.4457G>A (p.Ser1486Asn) c.5204G>A (p.Ser1735Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729838T>A | CA7869309 | CREBBP | c.5209A>T (p.Ser1737Cys) c.5095A>T (p.Ser1699Cys) c.5164A>T (p.Ser1722Cys) c.4792A>T (p.Ser1598Cys) c.4948A>T (p.Ser1650Cys) c.5155A>T (p.Ser1719Cys) c.4456A>T (p.Ser1486Cys) c.5203A>T (p.Ser1735Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729838T>C | CA394557676 | CREBBP | c.5209A>G (p.Ser1737Gly) c.5095A>G (p.Ser1699Gly) c.5164A>G (p.Ser1722Gly) c.4792A>G (p.Ser1598Gly) c.4948A>G (p.Ser1650Gly) c.5155A>G (p.Ser1719Gly) c.4456A>G (p.Ser1486Gly) c.5203A>G (p.Ser1735Gly) | dbSNP |
16 | g.3729838T>G | CA394557678 | CREBBP | c.5209A>C (p.Ser1737Arg) c.5095A>C (p.Ser1699Arg) c.5164A>C (p.Ser1722Arg) c.4792A>C (p.Ser1598Arg) c.4948A>C (p.Ser1650Arg) c.5155A>C (p.Ser1719Arg) c.4456A>C (p.Ser1486Arg) c.5203A>C (p.Ser1735Arg) | gnomAD v4 |
16 | g.3729838T= | CA2202916557 | CREBBP | c.5209A= (p.Ser1737=) c.5095A= (p.Ser1699=) c.5164A= (p.Ser1722=) c.4792A= (p.Ser1598=) c.4948A= (p.Ser1650=) c.5155A= (p.Ser1719=) c.4456A= (p.Ser1486=) c.5203A= (p.Ser1735=) | |
16 | g.3729839C>A | CA394557680 | CREBBP | c.5208G>T (p.Lys1736Asn) c.5094G>T (p.Lys1698Asn) c.5163G>T (p.Lys1721Asn) c.4791G>T (p.Lys1597Asn) c.4947G>T (p.Lys1649Asn) c.5154G>T (p.Lys1718Asn) c.4455G>T (p.Lys1485Asn) c.5202G>T (p.Lys1734Asn) | |
16 | g.3729839C>G | CA394557682 | CREBBP | c.5208G>C (p.Lys1736Asn) c.5094G>C (p.Lys1698Asn) c.5163G>C (p.Lys1721Asn) c.4791G>C (p.Lys1597Asn) c.4947G>C (p.Lys1649Asn) c.5154G>C (p.Lys1718Asn) c.4455G>C (p.Lys1485Asn) c.5202G>C (p.Lys1734Asn) | ClinVar dbSNP |
16 | g.3729839C>T | CA493394328 | CREBBP | c.5208G>A (p.Lys1736=) c.5094G>A (p.Lys1698=) c.5163G>A (p.Lys1721=) c.4791G>A (p.Lys1597=) c.4947G>A (p.Lys1649=) c.5154G>A (p.Lys1718=) c.4455G>A (p.Lys1485=) c.5202G>A (p.Lys1734=) | dbSNP gnomAD v4 |
16 | g.3729840T>A | CA394557687 | CREBBP | c.5207A>T (p.Lys1736Met) c.5093A>T (p.Lys1698Met) c.5162A>T (p.Lys1721Met) c.4790A>T (p.Lys1597Met) c.4946A>T (p.Lys1649Met) c.5153A>T (p.Lys1718Met) c.4454A>T (p.Lys1485Met) c.5201A>T (p.Lys1734Met) | dbSNP |
16 | g.3729840T>C | CA394557684 | CREBBP | c.5207A>G (p.Lys1736Arg) c.5093A>G (p.Lys1698Arg) c.5162A>G (p.Lys1721Arg) c.4790A>G (p.Lys1597Arg) c.4946A>G (p.Lys1649Arg) c.5153A>G (p.Lys1718Arg) c.4454A>G (p.Lys1485Arg) c.5201A>G (p.Lys1734Arg) | dbSNP |
16 | g.3729840T>G | CA394557685 | CREBBP | c.5207A>C (p.Lys1736Thr) c.5093A>C (p.Lys1698Thr) c.5162A>C (p.Lys1721Thr) c.4790A>C (p.Lys1597Thr) c.4946A>C (p.Lys1649Thr) c.5153A>C (p.Lys1718Thr) c.4454A>C (p.Lys1485Thr) c.5201A>C (p.Lys1734Thr) | |
16 | g.3729841T>A | CA394557689 | CREBBP | c.5206A>T (p.Lys1736Ter) c.5092A>T (p.Lys1698Ter) c.5161A>T (p.Lys1721Ter) c.4789A>T (p.Lys1597Ter) c.4945A>T (p.Lys1649Ter) c.5152A>T (p.Lys1718Ter) c.4453A>T (p.Lys1485Ter) c.5200A>T (p.Lys1734Ter) | dbSNP |
16 | g.3729841T>C | CA394557691 | CREBBP | c.5206A>G (p.Lys1736Glu) c.5092A>G (p.Lys1698Glu) c.5161A>G (p.Lys1721Glu) c.4789A>G (p.Lys1597Glu) c.4945A>G (p.Lys1649Glu) c.5152A>G (p.Lys1718Glu) c.4453A>G (p.Lys1485Glu) c.5200A>G (p.Lys1734Glu) | |
16 | g.3729841T>G | CA394557693 | CREBBP | c.5206A>C (p.Lys1736Gln) c.5092A>C (p.Lys1698Gln) c.5161A>C (p.Lys1721Gln) c.4789A>C (p.Lys1597Gln) c.4945A>C (p.Lys1649Gln) c.5152A>C (p.Lys1718Gln) c.4453A>C (p.Lys1485Gln) c.5200A>C (p.Lys1734Gln) | |
16 | g.3729842C>A | CA7869311 | CREBBP | c.5205G>T (p.Thr1735=) c.5091G>T (p.Thr1697=) c.5160G>T (p.Thr1720=) c.4788G>T (p.Thr1596=) c.4944G>T (p.Thr1648=) c.5151G>T (p.Thr1717=) c.4452G>T (p.Thr1484=) c.5199G>T (p.Thr1733=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729842C= | CA2202916558 | CREBBP | c.5205G= (p.Thr1735=) c.5091G= (p.Thr1697=) c.5160G= (p.Thr1720=) c.4788G= (p.Thr1596=) c.4944G= (p.Thr1648=) c.5151G= (p.Thr1717=) c.4452G= (p.Thr1484=) c.5199G= (p.Thr1733=) | |
16 | g.3729842C>G | CA7869310 | CREBBP | c.5205G>C (p.Thr1735=) c.5091G>C (p.Thr1697=) c.5160G>C (p.Thr1720=) c.4788G>C (p.Thr1596=) c.4944G>C (p.Thr1648=) c.5151G>C (p.Thr1717=) c.4452G>C (p.Thr1484=) c.5199G>C (p.Thr1733=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729842C>T | CA493394333 | CREBBP | c.5205G>A (p.Thr1735=) c.5091G>A (p.Thr1697=) c.5160G>A (p.Thr1720=) c.4788G>A (p.Thr1596=) c.4944G>A (p.Thr1648=) c.5151G>A (p.Thr1717=) c.4452G>A (p.Thr1484=) c.5199G>A (p.Thr1733=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729843G>A | CA16620202 | CREBBP | c.5204C>T (p.Thr1735Met) c.5090C>T (p.Thr1697Met) c.5159C>T (p.Thr1720Met) c.4787C>T (p.Thr1596Met) c.4943C>T (p.Thr1648Met) c.5150C>T (p.Thr1717Met) c.4451C>T (p.Thr1484Met) c.5198C>T (p.Thr1733Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3729843G>C | CA394557697 | CREBBP | c.5204C>G (p.Thr1735Arg) c.5090C>G (p.Thr1697Arg) c.5159C>G (p.Thr1720Arg) c.4787C>G (p.Thr1596Arg) c.4943C>G (p.Thr1648Arg) c.5150C>G (p.Thr1717Arg) c.4451C>G (p.Thr1484Arg) c.5198C>G (p.Thr1733Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729843G= | CA2202916559 | CREBBP | c.5204C= (p.Thr1735=) c.5090C= (p.Thr1697=) c.5159C= (p.Thr1720=) c.4787C= (p.Thr1596=) c.4943C= (p.Thr1648=) c.5150C= (p.Thr1717=) c.4451C= (p.Thr1484=) c.5198C= (p.Thr1733=) | |
16 | g.3729843G>T | CA394557699 | CREBBP | c.5204C>A (p.Thr1735Lys) c.5090C>A (p.Thr1697Lys) c.5159C>A (p.Thr1720Lys) c.4787C>A (p.Thr1596Lys) c.4943C>A (p.Thr1648Lys) c.5150C>A (p.Thr1717Lys) c.4451C>A (p.Thr1484Lys) c.5198C>A (p.Thr1733Lys) | dbSNP gnomAD v4 |
16 | g.3729844T>A | CA394557701 | CREBBP | c.5203A>T (p.Thr1735Ser) c.5089A>T (p.Thr1697Ser) c.5158A>T (p.Thr1720Ser) c.4786A>T (p.Thr1596Ser) c.4942A>T (p.Thr1648Ser) c.5149A>T (p.Thr1717Ser) c.4450A>T (p.Thr1484Ser) c.5197A>T (p.Thr1733Ser) | dbSNP |
16 | g.3729844T>C | CA394557703 | CREBBP | c.5203A>G (p.Thr1735Ala) c.5089A>G (p.Thr1697Ala) c.5158A>G (p.Thr1720Ala) c.4786A>G (p.Thr1596Ala) c.4942A>G (p.Thr1648Ala) c.5149A>G (p.Thr1717Ala) c.4450A>G (p.Thr1484Ala) c.5197A>G (p.Thr1733Ala) | |
16 | g.3729844T>G | CA394557704 | CREBBP | c.5203A>C (p.Thr1735Pro) c.5089A>C (p.Thr1697Pro) c.5158A>C (p.Thr1720Pro) c.4786A>C (p.Thr1596Pro) c.4942A>C (p.Thr1648Pro) c.5149A>C (p.Thr1717Pro) c.4450A>C (p.Thr1484Pro) c.5197A>C (p.Thr1733Pro) | |
16 | g.3729845G>A | CA493394338 | CREBBP | c.5202C>T (p.Asn1734=) c.5088C>T (p.Asn1696=) c.5157C>T (p.Asn1719=) c.4785C>T (p.Asn1595=) c.4941C>T (p.Asn1647=) c.5148C>T (p.Asn1716=) c.4449C>T (p.Asn1483=) c.5196C>T (p.Asn1732=) | |
16 | g.3729845G>C | CA394557707 | CREBBP | c.5202C>G (p.Asn1734Lys) c.5088C>G (p.Asn1696Lys) c.5157C>G (p.Asn1719Lys) c.4785C>G (p.Asn1595Lys) c.4941C>G (p.Asn1647Lys) c.5148C>G (p.Asn1716Lys) c.4449C>G (p.Asn1483Lys) c.5196C>G (p.Asn1732Lys) | |
16 | g.3729845G>T | CA394557708 | CREBBP | c.5202C>A (p.Asn1734Lys) c.5088C>A (p.Asn1696Lys) c.5157C>A (p.Asn1719Lys) c.4785C>A (p.Asn1595Lys) c.4941C>A (p.Asn1647Lys) c.5148C>A (p.Asn1716Lys) c.4449C>A (p.Asn1483Lys) c.5196C>A (p.Asn1732Lys) | gnomAD v4 |
16 | g.3729846T>A | CA394557714 | CREBBP | c.5201A>T (p.Asn1734Ile) c.5087A>T (p.Asn1696Ile) c.5156A>T (p.Asn1719Ile) c.4784A>T (p.Asn1595Ile) c.4940A>T (p.Asn1647Ile) c.5147A>T (p.Asn1716Ile) c.4448A>T (p.Asn1483Ile) c.5195A>T (p.Asn1732Ile) | dbSNP |
16 | g.3729846T>C | CA394557712 | CREBBP | c.5201A>G (p.Asn1734Ser) c.5087A>G (p.Asn1696Ser) c.5156A>G (p.Asn1719Ser) c.4784A>G (p.Asn1595Ser) c.4940A>G (p.Asn1647Ser) c.5147A>G (p.Asn1716Ser) c.4448A>G (p.Asn1483Ser) c.5195A>G (p.Asn1732Ser) | dbSNP |
16 | g.3729846T>G | CA394557710 | CREBBP | c.5201A>C (p.Asn1734Thr) c.5087A>C (p.Asn1696Thr) c.5156A>C (p.Asn1719Thr) c.4784A>C (p.Asn1595Thr) c.4940A>C (p.Asn1647Thr) c.5147A>C (p.Asn1716Thr) c.4448A>C (p.Asn1483Thr) c.5195A>C (p.Asn1732Thr) | ClinVar gnomAD v4 |