Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729614_3729686delinsCTTGCGTTTGCAGCCCTTGGTGTGCTGCACCACCCGCTTCATCTTCTGGCAGGATGGCAGCGAGCAGTTGGCG | CA2202916470 | CREBBP | c.5361_5433delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1787=) c.5247_5319delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1749=) c.5316_5388delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1772=) c.4944_5016delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1648=) c.5100_5172delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1700=) c.5307_5379delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1769=) c.4608_4680delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1536=) c.5355_5427delinsCGCCAACTGCTCGCTGCCATCCTGCCAGAAGATGAAGCGGGTGGTGCAGCACACCAAGGGCTGCAAACGCAAG (p.Asn1785=) | |
16 | g.3729620_3729691del | CA658658387 | CREBBP | c.5361_5432del (p.Asn1787_Arg1810del) c.5247_5318del (p.Asn1749_Arg1772del) c.5316_5387del (p.Asn1772_Arg1795del) c.4944_5015del (p.Asn1648_Arg1671del) c.5100_5171del (p.Asn1700_Arg1723del) c.5307_5378del (p.Asn1769_Arg1792del) c.4608_4679del (p.Asn1536_Arg1559del) c.5355_5426del (p.Asn1785_Arg1808del) | ClinVar dbSNP |
16 | g.3729668T>A | CA493394141 | CREBBP | c.5379A>T (p.Pro1793=) c.5265A>T (p.Pro1755=) c.5334A>T (p.Pro1778=) c.4962A>T (p.Pro1654=) c.5118A>T (p.Pro1706=) c.5325A>T (p.Pro1775=) c.4626A>T (p.Pro1542=) c.5373A>T (p.Pro1791=) | |
16 | g.3729668T>C | CA7869284 | CREBBP | c.5379A>G (p.Pro1793=) c.5265A>G (p.Pro1755=) c.5334A>G (p.Pro1778=) c.4962A>G (p.Pro1654=) c.5118A>G (p.Pro1706=) c.5325A>G (p.Pro1775=) c.4626A>G (p.Pro1542=) c.5373A>G (p.Pro1791=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729668T>G | CA493394144 | CREBBP | c.5379A>C (p.Pro1793=) c.5265A>C (p.Pro1755=) c.5334A>C (p.Pro1778=) c.4962A>C (p.Pro1654=) c.5118A>C (p.Pro1706=) c.5325A>C (p.Pro1775=) c.4626A>C (p.Pro1542=) c.5373A>C (p.Pro1791=) | |
16 | g.3729668T= | CA2202916480 | CREBBP | c.5379A= (p.Pro1793=) c.5265A= (p.Pro1755=) c.5334A= (p.Pro1778=) c.4962A= (p.Pro1654=) c.5118A= (p.Pro1706=) c.5325A= (p.Pro1775=) c.4626A= (p.Pro1542=) c.5373A= (p.Pro1791=) | |
16 | g.3729669G>A | CA394557017 | CREBBP | c.5378C>T (p.Pro1793Leu) c.5264C>T (p.Pro1755Leu) c.5333C>T (p.Pro1778Leu) c.4961C>T (p.Pro1654Leu) c.5117C>T (p.Pro1706Leu) c.5324C>T (p.Pro1775Leu) c.4625C>T (p.Pro1542Leu) c.5372C>T (p.Pro1791Leu) | gnomAD v4 |
16 | g.3729669G>C | CA394557018 | CREBBP | c.5378C>G (p.Pro1793Arg) c.5264C>G (p.Pro1755Arg) c.5333C>G (p.Pro1778Arg) c.4961C>G (p.Pro1654Arg) c.5117C>G (p.Pro1706Arg) c.5324C>G (p.Pro1775Arg) c.4625C>G (p.Pro1542Arg) c.5372C>G (p.Pro1791Arg) | |
16 | g.3729669G>T | CA394557016 | CREBBP | c.5378C>A (p.Pro1793Gln) c.5264C>A (p.Pro1755Gln) c.5333C>A (p.Pro1778Gln) c.4961C>A (p.Pro1654Gln) c.5117C>A (p.Pro1706Gln) c.5324C>A (p.Pro1775Gln) c.4625C>A (p.Pro1542Gln) c.5372C>A (p.Pro1791Gln) | dbSNP |
16 | g.3729670G>A | CA394557020 | CREBBP | c.5377C>T (p.Pro1793Ser) c.5263C>T (p.Pro1755Ser) c.5332C>T (p.Pro1778Ser) c.4960C>T (p.Pro1654Ser) c.5116C>T (p.Pro1706Ser) c.5323C>T (p.Pro1775Ser) c.4624C>T (p.Pro1542Ser) c.5371C>T (p.Pro1791Ser) | dbSNP |
16 | g.3729670G>C | CA394557019 | CREBBP | c.5377C>G (p.Pro1793Ala) c.5263C>G (p.Pro1755Ala) c.5332C>G (p.Pro1778Ala) c.4960C>G (p.Pro1654Ala) c.5116C>G (p.Pro1706Ala) c.5323C>G (p.Pro1775Ala) c.4624C>G (p.Pro1542Ala) c.5371C>G (p.Pro1791Ala) | dbSNP |
16 | g.3729670G>T | CA394557021 | CREBBP | c.5377C>A (p.Pro1793Thr) c.5263C>A (p.Pro1755Thr) c.5332C>A (p.Pro1778Thr) c.4960C>A (p.Pro1654Thr) c.5116C>A (p.Pro1706Thr) c.5323C>A (p.Pro1775Thr) c.4624C>A (p.Pro1542Thr) c.5371C>A (p.Pro1791Thr) | dbSNP |
16 | g.3729671C>A | CA493394149 | CREBBP | c.5376G>T (p.Leu1792=) c.5262G>T (p.Leu1754=) c.5331G>T (p.Leu1777=) c.4959G>T (p.Leu1653=) c.5115G>T (p.Leu1705=) c.5322G>T (p.Leu1774=) c.4623G>T (p.Leu1541=) c.5370G>T (p.Leu1790=) | dbSNP |
16 | g.3729671C>G | CA493394150 | CREBBP | c.5376G>C (p.Leu1792=) c.5262G>C (p.Leu1754=) c.5331G>C (p.Leu1777=) c.4959G>C (p.Leu1653=) c.5115G>C (p.Leu1705=) c.5322G>C (p.Leu1774=) c.4623G>C (p.Leu1541=) c.5370G>C (p.Leu1790=) | dbSNP |
16 | g.3729671C>T | CA493394151 | CREBBP | c.5376G>A (p.Leu1792=) c.5262G>A (p.Leu1754=) c.5331G>A (p.Leu1777=) c.4959G>A (p.Leu1653=) c.5115G>A (p.Leu1705=) c.5322G>A (p.Leu1774=) c.4623G>A (p.Leu1541=) c.5370G>A (p.Leu1790=) | dbSNP gnomAD v4 |
16 | g.3729672A>C | CA394557022 | CREBBP | c.5375T>G (p.Leu1792Arg) c.5261T>G (p.Leu1754Arg) c.5330T>G (p.Leu1777Arg) c.4958T>G (p.Leu1653Arg) c.5114T>G (p.Leu1705Arg) c.5321T>G (p.Leu1774Arg) c.4622T>G (p.Leu1541Arg) c.5369T>G (p.Leu1790Arg) | |
16 | g.3729672A>G | CA394557023 | CREBBP | c.5375T>C (p.Leu1792Pro) c.5261T>C (p.Leu1754Pro) c.5330T>C (p.Leu1777Pro) c.4958T>C (p.Leu1653Pro) c.5114T>C (p.Leu1705Pro) c.5321T>C (p.Leu1774Pro) c.4622T>C (p.Leu1541Pro) c.5369T>C (p.Leu1790Pro) | dbSNP |
16 | g.3729672A>T | CA394557024 | CREBBP | c.5375T>A (p.Leu1792Gln) c.5261T>A (p.Leu1754Gln) c.5330T>A (p.Leu1777Gln) c.4958T>A (p.Leu1653Gln) c.5114T>A (p.Leu1705Gln) c.5321T>A (p.Leu1774Gln) c.4622T>A (p.Leu1541Gln) c.5369T>A (p.Leu1790Gln) | dbSNP |
16 | g.3729673G>A | CA7869285 | CREBBP | c.5374C>T (p.Leu1792=) c.5260C>T (p.Leu1754=) c.5329C>T (p.Leu1777=) c.4957C>T (p.Leu1653=) c.5113C>T (p.Leu1705=) c.5320C>T (p.Leu1774=) c.4621C>T (p.Leu1541=) c.5368C>T (p.Leu1790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729673G>C | CA394557025 | CREBBP | c.5374C>G (p.Leu1792Val) c.5260C>G (p.Leu1754Val) c.5329C>G (p.Leu1777Val) c.4957C>G (p.Leu1653Val) c.5113C>G (p.Leu1705Val) c.5320C>G (p.Leu1774Val) c.4621C>G (p.Leu1541Val) c.5368C>G (p.Leu1790Val) | dbSNP |
16 | g.3729673G= | CA2202916481 | CREBBP | c.5374C= (p.Leu1792=) c.5260C= (p.Leu1754=) c.5329C= (p.Leu1777=) c.4957C= (p.Leu1653=) c.5113C= (p.Leu1705=) c.5320C= (p.Leu1774=) c.4621C= (p.Leu1541=) c.5368C= (p.Leu1790=) | |
16 | g.3729673G>T | CA394557026 | CREBBP | c.5374C>A (p.Leu1792Met) c.5260C>A (p.Leu1754Met) c.5329C>A (p.Leu1777Met) c.4957C>A (p.Leu1653Met) c.5113C>A (p.Leu1705Met) c.5320C>A (p.Leu1774Met) c.4621C>A (p.Leu1541Met) c.5368C>A (p.Leu1790Met) | |
16 | g.3729674C>A | CA493394155 | CREBBP | c.5373G>T (p.Ser1791=) c.5259G>T (p.Ser1753=) c.5328G>T (p.Ser1776=) c.4956G>T (p.Ser1652=) c.5112G>T (p.Ser1704=) c.5319G>T (p.Ser1773=) c.4620G>T (p.Ser1540=) c.5367G>T (p.Ser1789=) | dbSNP |
16 | g.3729674C= | CA2202916482 | CREBBP | c.5373G= (p.Ser1791=) c.5259G= (p.Ser1753=) c.5328G= (p.Ser1776=) c.4956G= (p.Ser1652=) c.5112G= (p.Ser1704=) c.5319G= (p.Ser1773=) c.4620G= (p.Ser1540=) c.5367G= (p.Ser1789=) | |
16 | g.3729674C>G | CA493394157 | CREBBP | c.5373G>C (p.Ser1791=) c.5259G>C (p.Ser1753=) c.5328G>C (p.Ser1776=) c.4956G>C (p.Ser1652=) c.5112G>C (p.Ser1704=) c.5319G>C (p.Ser1773=) c.4620G>C (p.Ser1540=) c.5367G>C (p.Ser1789=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729674C>T | CA7869286 | CREBBP | c.5373G>A (p.Ser1791=) c.5259G>A (p.Ser1753=) c.5328G>A (p.Ser1776=) c.4956G>A (p.Ser1652=) c.5112G>A (p.Ser1704=) c.5319G>A (p.Ser1773=) c.4620G>A (p.Ser1540=) c.5367G>A (p.Ser1789=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729675G>A | CA394557027 | CREBBP | c.5372C>T (p.Ser1791Leu) c.5258C>T (p.Ser1753Leu) c.5327C>T (p.Ser1776Leu) c.4955C>T (p.Ser1652Leu) c.5111C>T (p.Ser1704Leu) c.5318C>T (p.Ser1773Leu) c.4619C>T (p.Ser1540Leu) c.5366C>T (p.Ser1789Leu) | dbSNP gnomAD v4 |
16 | g.3729675G>C | CA394557028 | CREBBP | c.5372C>G (p.Ser1791Trp) c.5258C>G (p.Ser1753Trp) c.5327C>G (p.Ser1776Trp) c.4955C>G (p.Ser1652Trp) c.5111C>G (p.Ser1704Trp) c.5318C>G (p.Ser1773Trp) c.4619C>G (p.Ser1540Trp) c.5366C>G (p.Ser1789Trp) | dbSNP |
16 | g.3729675G= | CA2202916483 | CREBBP | c.5372C= (p.Ser1791=) c.5258C= (p.Ser1753=) c.5327C= (p.Ser1776=) c.4955C= (p.Ser1652=) c.5111C= (p.Ser1704=) c.5318C= (p.Ser1773=) c.4619C= (p.Ser1540=) c.5366C= (p.Ser1789=) | |
16 | g.3729675G>T | CA394557029 | CREBBP | c.5372C>A (p.Ser1791Ter) c.5258C>A (p.Ser1753Ter) c.5327C>A (p.Ser1776Ter) c.4955C>A (p.Ser1652Ter) c.5111C>A (p.Ser1704Ter) c.5318C>A (p.Ser1773Ter) c.4619C>A (p.Ser1540Ter) c.5366C>A (p.Ser1789Ter) | dbSNP |
16 | g.3729676A= | CA2202916484 | CREBBP | c.5371T= (p.Ser1791=) c.5257T= (p.Ser1753=) c.5326T= (p.Ser1776=) c.4954T= (p.Ser1652=) c.5110T= (p.Ser1704=) c.5317T= (p.Ser1773=) c.4618T= (p.Ser1540=) c.5365T= (p.Ser1789=) | |
16 | g.3729676A>C | CA7869287 | CREBBP | c.5371T>G (p.Ser1791Ala) c.5257T>G (p.Ser1753Ala) c.5326T>G (p.Ser1776Ala) c.4954T>G (p.Ser1652Ala) c.5110T>G (p.Ser1704Ala) c.5317T>G (p.Ser1773Ala) c.4618T>G (p.Ser1540Ala) c.5365T>G (p.Ser1789Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729676A>G | CA394557030 | CREBBP | c.5371T>C (p.Ser1791Pro) c.5257T>C (p.Ser1753Pro) c.5326T>C (p.Ser1776Pro) c.4954T>C (p.Ser1652Pro) c.5110T>C (p.Ser1704Pro) c.5317T>C (p.Ser1773Pro) c.4618T>C (p.Ser1540Pro) c.5365T>C (p.Ser1789Pro) | COSMIC |
16 | g.3729676A>T | CA394557031 | CREBBP | c.5371T>A (p.Ser1791Thr) c.5257T>A (p.Ser1753Thr) c.5326T>A (p.Ser1776Thr) c.4954T>A (p.Ser1652Thr) c.5110T>A (p.Ser1704Thr) c.5317T>A (p.Ser1773Thr) c.4618T>A (p.Ser1540Thr) c.5365T>A (p.Ser1789Thr) | dbSNP |
16 | g.3729677G>A | CA493394163 | CREBBP | c.5370C>T (p.Cys1790=) c.5256C>T (p.Cys1752=) c.5325C>T (p.Cys1775=) c.4953C>T (p.Cys1651=) c.5109C>T (p.Cys1703=) c.5316C>T (p.Cys1772=) c.4617C>T (p.Cys1539=) c.5364C>T (p.Cys1788=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729677G>C | CA394557032 | CREBBP | c.5370C>G (p.Cys1790Trp) c.5256C>G (p.Cys1752Trp) c.5325C>G (p.Cys1775Trp) c.4953C>G (p.Cys1651Trp) c.5109C>G (p.Cys1703Trp) c.5316C>G (p.Cys1772Trp) c.4617C>G (p.Cys1539Trp) c.5364C>G (p.Cys1788Trp) | dbSNP |
16 | g.3729677G= | CA2202916485 | CREBBP | c.5370C= (p.Cys1790=) c.5256C= (p.Cys1752=) c.5325C= (p.Cys1775=) c.4953C= (p.Cys1651=) c.5109C= (p.Cys1703=) c.5316C= (p.Cys1772=) c.4617C= (p.Cys1539=) c.5364C= (p.Cys1788=) | |
16 | g.3729677G>T | CA394557033 | CREBBP | c.5370C>A (p.Cys1790Ter) c.5256C>A (p.Cys1752Ter) c.5325C>A (p.Cys1775Ter) c.4953C>A (p.Cys1651Ter) c.5109C>A (p.Cys1703Ter) c.5316C>A (p.Cys1772Ter) c.4617C>A (p.Cys1539Ter) c.5364C>A (p.Cys1788Ter) | |
16 | g.3729678C>A | CA394557034 | CREBBP | c.5369G>T (p.Cys1790Phe) c.5255G>T (p.Cys1752Phe) c.5324G>T (p.Cys1775Phe) c.4952G>T (p.Cys1651Phe) c.5108G>T (p.Cys1703Phe) c.5315G>T (p.Cys1772Phe) c.4616G>T (p.Cys1539Phe) c.5363G>T (p.Cys1788Phe) | |
16 | g.3729678C>G | CA394557035 | CREBBP | c.5369G>C (p.Cys1790Ser) c.5255G>C (p.Cys1752Ser) c.5324G>C (p.Cys1775Ser) c.4952G>C (p.Cys1651Ser) c.5108G>C (p.Cys1703Ser) c.5315G>C (p.Cys1772Ser) c.4616G>C (p.Cys1539Ser) c.5363G>C (p.Cys1788Ser) | dbSNP |
16 | g.3729678C>T | CA394557036 | CREBBP | c.5369G>A (p.Cys1790Tyr) c.5255G>A (p.Cys1752Tyr) c.5324G>A (p.Cys1775Tyr) c.4952G>A (p.Cys1651Tyr) c.5108G>A (p.Cys1703Tyr) c.5315G>A (p.Cys1772Tyr) c.4616G>A (p.Cys1539Tyr) c.5363G>A (p.Cys1788Tyr) | dbSNP |
16 | g.3729679A>C | CA394557037 | CREBBP | c.5368T>G (p.Cys1790Gly) c.5254T>G (p.Cys1752Gly) c.5323T>G (p.Cys1775Gly) c.4951T>G (p.Cys1651Gly) c.5107T>G (p.Cys1703Gly) c.5314T>G (p.Cys1772Gly) c.4615T>G (p.Cys1539Gly) c.5362T>G (p.Cys1788Gly) | |
16 | g.3729679A>G | CA394557038 | CREBBP | c.5368T>C (p.Cys1790Arg) c.5254T>C (p.Cys1752Arg) c.5323T>C (p.Cys1775Arg) c.4951T>C (p.Cys1651Arg) c.5107T>C (p.Cys1703Arg) c.5314T>C (p.Cys1772Arg) c.4615T>C (p.Cys1539Arg) c.5362T>C (p.Cys1788Arg) | |
16 | g.3729679A>T | CA394557039 | CREBBP | c.5368T>A (p.Cys1790Ser) c.5254T>A (p.Cys1752Ser) c.5323T>A (p.Cys1775Ser) c.4951T>A (p.Cys1651Ser) c.5107T>A (p.Cys1703Ser) c.5314T>A (p.Cys1772Ser) c.4615T>A (p.Cys1539Ser) c.5362T>A (p.Cys1788Ser) | dbSNP |
16 | g.3729680G>A | CA493394167 | CREBBP | c.5367C>T (p.Asn1789=) c.5253C>T (p.Asn1751=) c.5322C>T (p.Asn1774=) c.4950C>T (p.Asn1650=) c.5106C>T (p.Asn1702=) c.5313C>T (p.Asn1771=) c.4614C>T (p.Asn1538=) c.5361C>T (p.Asn1787=) | |
16 | g.3729680G>C | CA394557040 | CREBBP | c.5367C>G (p.Asn1789Lys) c.5253C>G (p.Asn1751Lys) c.5322C>G (p.Asn1774Lys) c.4950C>G (p.Asn1650Lys) c.5106C>G (p.Asn1702Lys) c.5313C>G (p.Asn1771Lys) c.4614C>G (p.Asn1538Lys) c.5361C>G (p.Asn1787Lys) | ClinVar dbSNP |
16 | g.3729680G>T | CA394557041 | CREBBP | c.5367C>A (p.Asn1789Lys) c.5253C>A (p.Asn1751Lys) c.5322C>A (p.Asn1774Lys) c.4950C>A (p.Asn1650Lys) c.5106C>A (p.Asn1702Lys) c.5313C>A (p.Asn1771Lys) c.4614C>A (p.Asn1538Lys) c.5361C>A (p.Asn1787Lys) | COSMIC |
16 | g.3729681T>A | CA394557042 | CREBBP | c.5366A>T (p.Asn1789Ile) c.5252A>T (p.Asn1751Ile) c.5321A>T (p.Asn1774Ile) c.4949A>T (p.Asn1650Ile) c.5105A>T (p.Asn1702Ile) c.5312A>T (p.Asn1771Ile) c.4613A>T (p.Asn1538Ile) c.5360A>T (p.Asn1787Ile) | dbSNP |
16 | g.3729681T>C | CA394557043 | CREBBP | c.5366A>G (p.Asn1789Ser) c.5252A>G (p.Asn1751Ser) c.5321A>G (p.Asn1774Ser) c.4949A>G (p.Asn1650Ser) c.5105A>G (p.Asn1702Ser) c.5312A>G (p.Asn1771Ser) c.4613A>G (p.Asn1538Ser) c.5360A>G (p.Asn1787Ser) | ClinVar dbSNP |
16 | g.3729681T>G | CA16620199 | CREBBP | c.5366A>C (p.Asn1789Thr) c.5252A>C (p.Asn1751Thr) c.5321A>C (p.Asn1774Thr) c.4949A>C (p.Asn1650Thr) c.5105A>C (p.Asn1702Thr) c.5312A>C (p.Asn1771Thr) c.4613A>C (p.Asn1538Thr) c.5360A>C (p.Asn1787Thr) | ClinVar dbSNP |
16 | g.3729681T= | CA2202916486 | CREBBP | c.5366A= (p.Asn1789=) c.5252A= (p.Asn1751=) c.5321A= (p.Asn1774=) c.4949A= (p.Asn1650=) c.5105A= (p.Asn1702=) c.5312A= (p.Asn1771=) c.4613A= (p.Asn1538=) c.5360A= (p.Asn1787=) | |
16 | g.3729682T>A | CA394557045 | CREBBP | c.5365A>T (p.Asn1789Tyr) c.5251A>T (p.Asn1751Tyr) c.5320A>T (p.Asn1774Tyr) c.4948A>T (p.Asn1650Tyr) c.5104A>T (p.Asn1702Tyr) c.5311A>T (p.Asn1771Tyr) c.4612A>T (p.Asn1538Tyr) c.5359A>T (p.Asn1787Tyr) | dbSNP |
16 | g.3729682T>C | CA394557046 | CREBBP | c.5365A>G (p.Asn1789Asp) c.5251A>G (p.Asn1751Asp) c.5320A>G (p.Asn1774Asp) c.4948A>G (p.Asn1650Asp) c.5104A>G (p.Asn1702Asp) c.5311A>G (p.Asn1771Asp) c.4612A>G (p.Asn1538Asp) c.5359A>G (p.Asn1787Asp) | dbSNP |
16 | g.3729682T>G | CA394557044 | CREBBP | c.5365A>C (p.Asn1789His) c.5251A>C (p.Asn1751His) c.5320A>C (p.Asn1774His) c.4948A>C (p.Asn1650His) c.5104A>C (p.Asn1702His) c.5311A>C (p.Asn1771His) c.4612A>C (p.Asn1538His) c.5359A>C (p.Asn1787His) | |
16 | g.3729683G>A | CA493394168 | CREBBP | c.5364C>T (p.Ala1788=) c.5250C>T (p.Ala1750=) c.5319C>T (p.Ala1773=) c.4947C>T (p.Ala1649=) c.5103C>T (p.Ala1701=) c.5310C>T (p.Ala1770=) c.4611C>T (p.Ala1537=) c.5358C>T (p.Ala1786=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729683G>C | CA493394170 | CREBBP | c.5364C>G (p.Ala1788=) c.5250C>G (p.Ala1750=) c.5319C>G (p.Ala1773=) c.4947C>G (p.Ala1649=) c.5103C>G (p.Ala1701=) c.5310C>G (p.Ala1770=) c.4611C>G (p.Ala1537=) c.5358C>G (p.Ala1786=) | |
16 | g.3729683G= | CA2202916487 | CREBBP | c.5364C= (p.Ala1788=) c.5250C= (p.Ala1750=) c.5319C= (p.Ala1773=) c.4947C= (p.Ala1649=) c.5103C= (p.Ala1701=) c.5310C= (p.Ala1770=) c.4611C= (p.Ala1537=) c.5358C= (p.Ala1786=) | |
16 | g.3729683G>T | CA493394169 | CREBBP | c.5364C>A (p.Ala1788=) c.5250C>A (p.Ala1750=) c.5319C>A (p.Ala1773=) c.4947C>A (p.Ala1649=) c.5103C>A (p.Ala1701=) c.5310C>A (p.Ala1770=) c.4611C>A (p.Ala1537=) c.5358C>A (p.Ala1786=) | dbSNP |
16 | g.3729684G>A | CA394557047 | CREBBP | c.5363C>T (p.Ala1788Val) c.5249C>T (p.Ala1750Val) c.5318C>T (p.Ala1773Val) c.4946C>T (p.Ala1649Val) c.5102C>T (p.Ala1701Val) c.5309C>T (p.Ala1770Val) c.4610C>T (p.Ala1537Val) c.5357C>T (p.Ala1786Val) | dbSNP |
16 | g.3729684G>C | CA394557048 | CREBBP | c.5363C>G (p.Ala1788Gly) c.5249C>G (p.Ala1750Gly) c.5318C>G (p.Ala1773Gly) c.4946C>G (p.Ala1649Gly) c.5102C>G (p.Ala1701Gly) c.5309C>G (p.Ala1770Gly) c.4610C>G (p.Ala1537Gly) c.5357C>G (p.Ala1786Gly) | dbSNP |
16 | g.3729684G>T | CA394557049 | CREBBP | c.5363C>A (p.Ala1788Asp) c.5249C>A (p.Ala1750Asp) c.5318C>A (p.Ala1773Asp) c.4946C>A (p.Ala1649Asp) c.5102C>A (p.Ala1701Asp) c.5309C>A (p.Ala1770Asp) c.4610C>A (p.Ala1537Asp) c.5357C>A (p.Ala1786Asp) | dbSNP |
16 | g.3729685C>A | CA394557050 | CREBBP | c.5362G>T (p.Ala1788Ser) c.5248G>T (p.Ala1750Ser) c.5317G>T (p.Ala1773Ser) c.4945G>T (p.Ala1649Ser) c.5101G>T (p.Ala1701Ser) c.5308G>T (p.Ala1770Ser) c.4609G>T (p.Ala1537Ser) c.5356G>T (p.Ala1786Ser) | dbSNP |
16 | g.3729685C= | CA2202916488 | CREBBP | c.5362G= (p.Ala1788=) c.5248G= (p.Ala1750=) c.5317G= (p.Ala1773=) c.4945G= (p.Ala1649=) c.5101G= (p.Ala1701=) c.5308G= (p.Ala1770=) c.4609G= (p.Ala1537=) c.5356G= (p.Ala1786=) | |
16 | g.3729685C>G | CA394557051 | CREBBP | c.5362G>C (p.Ala1788Pro) c.5248G>C (p.Ala1750Pro) c.5317G>C (p.Ala1773Pro) c.4945G>C (p.Ala1649Pro) c.5101G>C (p.Ala1701Pro) c.5308G>C (p.Ala1770Pro) c.4609G>C (p.Ala1537Pro) c.5356G>C (p.Ala1786Pro) | dbSNP |
16 | g.3729685C>T | CA16620200 | CREBBP | c.5362G>A (p.Ala1788Thr) c.5248G>A (p.Ala1750Thr) c.5317G>A (p.Ala1773Thr) c.4945G>A (p.Ala1649Thr) c.5101G>A (p.Ala1701Thr) c.5308G>A (p.Ala1770Thr) c.4609G>A (p.Ala1537Thr) c.5356G>A (p.Ala1786Thr) | ClinVar dbSNP |
16 | g.3729686G>A | CA222701 | CREBBP | c.5361C>T (p.Asn1787=) c.5247C>T (p.Asn1749=) c.5316C>T (p.Asn1772=) c.4944C>T (p.Asn1648=) c.5100C>T (p.Asn1700=) c.5307C>T (p.Asn1769=) c.4608C>T (p.Asn1536=) c.5355C>T (p.Asn1785=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729686G>C | CA394557052 | CREBBP | c.5361C>G (p.Asn1787Lys) c.5247C>G (p.Asn1749Lys) c.5316C>G (p.Asn1772Lys) c.4944C>G (p.Asn1648Lys) c.5100C>G (p.Asn1700Lys) c.5307C>G (p.Asn1769Lys) c.4608C>G (p.Asn1536Lys) c.5355C>G (p.Asn1785Lys) | dbSNP |
16 | g.3729686G= | CA2202916489 | CREBBP | c.5361C= (p.Asn1787=) c.5247C= (p.Asn1749=) c.5316C= (p.Asn1772=) c.4944C= (p.Asn1648=) c.5100C= (p.Asn1700=) c.5307C= (p.Asn1769=) c.4608C= (p.Asn1536=) c.5355C= (p.Asn1785=) | |
16 | g.3729686G>T | CA394557053 | CREBBP | c.5361C>A (p.Asn1787Lys) c.5247C>A (p.Asn1749Lys) c.5316C>A (p.Asn1772Lys) c.4944C>A (p.Asn1648Lys) c.5100C>A (p.Asn1700Lys) c.5307C>A (p.Asn1769Lys) c.4608C>A (p.Asn1536Lys) c.5355C>A (p.Asn1785Lys) | ClinVar dbSNP |
16 | g.3729687T>A | CA394557054 | CREBBP | c.5360A>T (p.Asn1787Ile) c.5246A>T (p.Asn1749Ile) c.5315A>T (p.Asn1772Ile) c.4943A>T (p.Asn1648Ile) c.5099A>T (p.Asn1700Ile) c.5306A>T (p.Asn1769Ile) c.4607A>T (p.Asn1536Ile) c.5354A>T (p.Asn1785Ile) | dbSNP |
16 | g.3729687T>C | CA394557055 | CREBBP | c.5360A>G (p.Asn1787Ser) c.5246A>G (p.Asn1749Ser) c.5315A>G (p.Asn1772Ser) c.4943A>G (p.Asn1648Ser) c.5099A>G (p.Asn1700Ser) c.5306A>G (p.Asn1769Ser) c.4607A>G (p.Asn1536Ser) c.5354A>G (p.Asn1785Ser) | dbSNP |
16 | g.3729687T>G | CA394557056 | CREBBP | c.5360A>C (p.Asn1787Thr) c.5246A>C (p.Asn1749Thr) c.5315A>C (p.Asn1772Thr) c.4943A>C (p.Asn1648Thr) c.5099A>C (p.Asn1700Thr) c.5306A>C (p.Asn1769Thr) c.4607A>C (p.Asn1536Thr) c.5354A>C (p.Asn1785Thr) | dbSNP |
16 | g.3729688T>A | CA394557058 | CREBBP | c.5359A>T (p.Asn1787Tyr) c.5245A>T (p.Asn1749Tyr) c.5314A>T (p.Asn1772Tyr) c.4942A>T (p.Asn1648Tyr) c.5098A>T (p.Asn1700Tyr) c.5305A>T (p.Asn1769Tyr) c.4606A>T (p.Asn1536Tyr) c.5353A>T (p.Asn1785Tyr) | dbSNP |
16 | g.3729688T>C | CA394557059 | CREBBP | c.5359A>G (p.Asn1787Asp) c.5245A>G (p.Asn1749Asp) c.5314A>G (p.Asn1772Asp) c.4942A>G (p.Asn1648Asp) c.5098A>G (p.Asn1700Asp) c.5305A>G (p.Asn1769Asp) c.4606A>G (p.Asn1536Asp) c.5353A>G (p.Asn1785Asp) | dbSNP |
16 | g.3729688T>G | CA394557057 | CREBBP | c.5359A>C (p.Asn1787His) c.5245A>C (p.Asn1749His) c.5314A>C (p.Asn1772His) c.4942A>C (p.Asn1648His) c.5098A>C (p.Asn1700His) c.5305A>C (p.Asn1769His) c.4606A>C (p.Asn1536His) c.5353A>C (p.Asn1785His) | dbSNP |
16 | g.3729689G>A | CA493394175 | CREBBP | c.5358C>T (p.Arg1786=) c.5244C>T (p.Arg1748=) c.5313C>T (p.Arg1771=) c.4941C>T (p.Arg1647=) c.5097C>T (p.Arg1699=) c.5304C>T (p.Arg1768=) c.4605C>T (p.Arg1535=) c.5352C>T (p.Arg1784=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729689G>C | CA493394176 | CREBBP | c.5358C>G (p.Arg1786=) c.5244C>G (p.Arg1748=) c.5313C>G (p.Arg1771=) c.4941C>G (p.Arg1647=) c.5097C>G (p.Arg1699=) c.5304C>G (p.Arg1768=) c.4605C>G (p.Arg1535=) c.5352C>G (p.Arg1784=) | |
16 | g.3729689G= | CA2202916490 | CREBBP | c.5358C= (p.Arg1786=) c.5244C= (p.Arg1748=) c.5313C= (p.Arg1771=) c.4941C= (p.Arg1647=) c.5097C= (p.Arg1699=) c.5304C= (p.Arg1768=) c.4605C= (p.Arg1535=) c.5352C= (p.Arg1784=) | |
16 | g.3729689G>T | CA493394177 | CREBBP | c.5358C>A (p.Arg1786=) c.5244C>A (p.Arg1748=) c.5313C>A (p.Arg1771=) c.4941C>A (p.Arg1647=) c.5097C>A (p.Arg1699=) c.5304C>A (p.Arg1768=) c.4605C>A (p.Arg1535=) c.5352C>A (p.Arg1784=) | gnomAD v4 |
16 | g.3729690C>A | CA394557060 | CREBBP | c.5357G>T (p.Arg1786Leu) c.5243G>T (p.Arg1748Leu) c.5312G>T (p.Arg1771Leu) c.4940G>T (p.Arg1647Leu) c.5096G>T (p.Arg1699Leu) c.5303G>T (p.Arg1768Leu) c.4604G>T (p.Arg1535Leu) c.5351G>T (p.Arg1784Leu) | dbSNP |
16 | g.3729690C= | CA2202916491 | CREBBP | c.5357G= (p.Arg1786=) c.5243G= (p.Arg1748=) c.5312G= (p.Arg1771=) c.4940G= (p.Arg1647=) c.5096G= (p.Arg1699=) c.5303G= (p.Arg1768=) c.4604G= (p.Arg1535=) c.5351G= (p.Arg1784=) | |
16 | g.3729690C>G | CA394557061 | CREBBP | c.5357G>C (p.Arg1786Pro) c.5243G>C (p.Arg1748Pro) c.5312G>C (p.Arg1771Pro) c.4940G>C (p.Arg1647Pro) c.5096G>C (p.Arg1699Pro) c.5303G>C (p.Arg1768Pro) c.4604G>C (p.Arg1535Pro) c.5351G>C (p.Arg1784Pro) | ClinVar dbSNP |
16 | g.3729690C>T | CA276972266 | CREBBP | c.5357G>A (p.Arg1786His) c.5243G>A (p.Arg1748His) c.5312G>A (p.Arg1771His) c.4940G>A (p.Arg1647His) c.5096G>A (p.Arg1699His) c.5303G>A (p.Arg1768His) c.4604G>A (p.Arg1535His) c.5351G>A (p.Arg1784His) | ClinVar dbSNP |
16 | g.3729691G>A | CA394557062 | CREBBP | c.5356C>T (p.Arg1786Cys) c.5242C>T (p.Arg1748Cys) c.5311C>T (p.Arg1771Cys) c.4939C>T (p.Arg1647Cys) c.5095C>T (p.Arg1699Cys) c.5302C>T (p.Arg1768Cys) c.4603C>T (p.Arg1535Cys) c.5350C>T (p.Arg1784Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729691G>C | CA394557063 | CREBBP | c.5356C>G (p.Arg1786Gly) c.5242C>G (p.Arg1748Gly) c.5311C>G (p.Arg1771Gly) c.4939C>G (p.Arg1647Gly) c.5095C>G (p.Arg1699Gly) c.5302C>G (p.Arg1768Gly) c.4603C>G (p.Arg1535Gly) c.5350C>G (p.Arg1784Gly) | ClinVar dbSNP |
16 | g.3729691G= | CA2202916492 | CREBBP | c.5356C= (p.Arg1786=) c.5242C= (p.Arg1748=) c.5311C= (p.Arg1771=) c.4939C= (p.Arg1647=) c.5095C= (p.Arg1699=) c.5302C= (p.Arg1768=) c.4603C= (p.Arg1535=) c.5350C= (p.Arg1784=) | |
16 | g.3729691G>T | CA394557064 | CREBBP | c.5356C>A (p.Arg1786Ser) c.5242C>A (p.Arg1748Ser) c.5311C>A (p.Arg1771Ser) c.4939C>A (p.Arg1647Ser) c.5095C>A (p.Arg1699Ser) c.5302C>A (p.Arg1768Ser) c.4603C>A (p.Arg1535Ser) c.5350C>A (p.Arg1784Ser) | dbSNP |
16 | g.3729696_3729701dup | CA658791853 | CREBBP | c.5351_5356dup (p.Cys1785_Arg1786insGlnCys) c.5237_5242dup (p.Cys1747_Arg1748insGlnCys) c.5306_5311dup (p.Cys1770_Arg1771insGlnCys) c.4934_4939dup (p.Cys1646_Arg1647insGlnCys) c.5090_5095dup (p.Cys1698_Arg1699insGlnCys) c.5297_5302dup (p.Cys1767_Arg1768insGlnCys) c.4598_4603dup (p.Cys1534_Arg1535insGlnCys) c.5345_5350dup (p.Cys1783_Arg1784insGlnCys) | |
16 | g.3729692G>A | CA493394179 | CREBBP | c.5355C>T (p.Cys1785=) c.5241C>T (p.Cys1747=) c.5310C>T (p.Cys1770=) c.4938C>T (p.Cys1646=) c.5094C>T (p.Cys1698=) c.5301C>T (p.Cys1767=) c.4602C>T (p.Cys1534=) c.5349C>T (p.Cys1783=) | dbSNP |
16 | g.3729692G>C | CA394557065 | CREBBP | c.5355C>G (p.Cys1785Trp) c.5241C>G (p.Cys1747Trp) c.5310C>G (p.Cys1770Trp) c.4938C>G (p.Cys1646Trp) c.5094C>G (p.Cys1698Trp) c.5301C>G (p.Cys1767Trp) c.4602C>G (p.Cys1534Trp) c.5349C>G (p.Cys1783Trp) | dbSNP |
16 | g.3729692G= | CA2202916493 | CREBBP | c.5355C= (p.Cys1785=) c.5241C= (p.Cys1747=) c.5310C= (p.Cys1770=) c.4938C= (p.Cys1646=) c.5094C= (p.Cys1698=) c.5301C= (p.Cys1767=) c.4602C= (p.Cys1534=) c.5349C= (p.Cys1783=) | |
16 | g.3729692G>T | CA394557066 | CREBBP | c.5355C>A (p.Cys1785Ter) c.5241C>A (p.Cys1747Ter) c.5310C>A (p.Cys1770Ter) c.4938C>A (p.Cys1646Ter) c.5094C>A (p.Cys1698Ter) c.5301C>A (p.Cys1767Ter) c.4602C>A (p.Cys1534Ter) c.5349C>A (p.Cys1783Ter) | |
16 | g.3729693C>A | CA394557067 | CREBBP | c.5354G>T (p.Cys1785Phe) c.5240G>T (p.Cys1747Phe) c.5309G>T (p.Cys1770Phe) c.4937G>T (p.Cys1646Phe) c.5093G>T (p.Cys1698Phe) c.5300G>T (p.Cys1767Phe) c.4601G>T (p.Cys1534Phe) c.5348G>T (p.Cys1783Phe) | dbSNP |
16 | g.3729693C= | CA2202916494 | CREBBP | c.5354G= (p.Cys1785=) c.5240G= (p.Cys1747=) c.5309G= (p.Cys1770=) c.4937G= (p.Cys1646=) c.5093G= (p.Cys1698=) c.5300G= (p.Cys1767=) c.4601G= (p.Cys1534=) c.5348G= (p.Cys1783=) | |
16 | g.3729693C>G | CA394557068 | CREBBP | c.5354G>C (p.Cys1785Ser) c.5240G>C (p.Cys1747Ser) c.5309G>C (p.Cys1770Ser) c.4937G>C (p.Cys1646Ser) c.5093G>C (p.Cys1698Ser) c.5300G>C (p.Cys1767Ser) c.4601G>C (p.Cys1534Ser) c.5348G>C (p.Cys1783Ser) | dbSNP |
16 | g.3729693C>T | CA394557069 | CREBBP | c.5354G>A (p.Cys1785Tyr) c.5240G>A (p.Cys1747Tyr) c.5309G>A (p.Cys1770Tyr) c.4937G>A (p.Cys1646Tyr) c.5093G>A (p.Cys1698Tyr) c.5300G>A (p.Cys1767Tyr) c.4601G>A (p.Cys1534Tyr) c.5348G>A (p.Cys1783Tyr) | dbSNP gnomAD v2 |
16 | g.3729694A>C | CA394557070 | CREBBP | c.5353T>G (p.Cys1785Gly) c.5239T>G (p.Cys1747Gly) c.5308T>G (p.Cys1770Gly) c.4936T>G (p.Cys1646Gly) c.5092T>G (p.Cys1698Gly) c.5299T>G (p.Cys1767Gly) c.4600T>G (p.Cys1534Gly) c.5347T>G (p.Cys1783Gly) | dbSNP |
16 | g.3729694A>G | CA394557071 | CREBBP | c.5353T>C (p.Cys1785Arg) c.5239T>C (p.Cys1747Arg) c.5308T>C (p.Cys1770Arg) c.4936T>C (p.Cys1646Arg) c.5092T>C (p.Cys1698Arg) c.5299T>C (p.Cys1767Arg) c.4600T>C (p.Cys1534Arg) c.5347T>C (p.Cys1783Arg) | dbSNP |
16 | g.3729694A>T | CA394557072 | CREBBP | c.5353T>A (p.Cys1785Ser) c.5239T>A (p.Cys1747Ser) c.5308T>A (p.Cys1770Ser) c.4936T>A (p.Cys1646Ser) c.5092T>A (p.Cys1698Ser) c.5299T>A (p.Cys1767Ser) c.4600T>A (p.Cys1534Ser) c.5347T>A (p.Cys1783Ser) | dbSNP |
16 | g.3729695C>A | CA394557074 | CREBBP | c.5352G>T (p.Gln1784His) c.5238G>T (p.Gln1746His) c.5307G>T (p.Gln1769His) c.4935G>T (p.Gln1645His) c.5091G>T (p.Gln1697His) c.5298G>T (p.Gln1766His) c.4599G>T (p.Gln1533His) c.5346G>T (p.Gln1782His) | ClinVar |
16 | g.3729695C= | CA2202916495 | CREBBP | c.5352G= (p.Gln1784=) c.5238G= (p.Gln1746=) c.5307G= (p.Gln1769=) c.4935G= (p.Gln1645=) c.5091G= (p.Gln1697=) c.5298G= (p.Gln1766=) c.4599G= (p.Gln1533=) c.5346G= (p.Gln1782=) | |
16 | g.3729695C>G | CA394557073 | CREBBP | c.5352G>C (p.Gln1784His) c.5238G>C (p.Gln1746His) c.5307G>C (p.Gln1769His) c.4935G>C (p.Gln1645His) c.5091G>C (p.Gln1697His) c.5298G>C (p.Gln1766His) c.4599G>C (p.Gln1533His) c.5346G>C (p.Gln1782His) | dbSNP |
16 | g.3729695C>T | CA7869288 | CREBBP | c.5352G>A (p.Gln1784=) c.5238G>A (p.Gln1746=) c.5307G>A (p.Gln1769=) c.4935G>A (p.Gln1645=) c.5091G>A (p.Gln1697=) c.5298G>A (p.Gln1766=) c.4599G>A (p.Gln1533=) c.5346G>A (p.Gln1782=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729696T>A | CA394557076 | CREBBP | c.5351A>T (p.Gln1784Leu) c.5237A>T (p.Gln1746Leu) c.5306A>T (p.Gln1769Leu) c.4934A>T (p.Gln1645Leu) c.5090A>T (p.Gln1697Leu) c.5297A>T (p.Gln1766Leu) c.4598A>T (p.Gln1533Leu) c.5345A>T (p.Gln1782Leu) | |
16 | g.3729696T>C | CA394557075 | CREBBP | c.5351A>G (p.Gln1784Arg) c.5237A>G (p.Gln1746Arg) c.5306A>G (p.Gln1769Arg) c.4934A>G (p.Gln1645Arg) c.5090A>G (p.Gln1697Arg) c.5297A>G (p.Gln1766Arg) c.4598A>G (p.Gln1533Arg) c.5345A>G (p.Gln1782Arg) | |
16 | g.3729696T>G | CA394557077 | CREBBP | c.5351A>C (p.Gln1784Pro) c.5237A>C (p.Gln1746Pro) c.5306A>C (p.Gln1769Pro) c.4934A>C (p.Gln1645Pro) c.5090A>C (p.Gln1697Pro) c.5297A>C (p.Gln1766Pro) c.4598A>C (p.Gln1533Pro) c.5345A>C (p.Gln1782Pro) | |
16 | g.3729697G>A | CA394557078 | CREBBP | c.5350C>T (p.Gln1784Ter) c.5236C>T (p.Gln1746Ter) c.5305C>T (p.Gln1769Ter) c.4933C>T (p.Gln1645Ter) c.5089C>T (p.Gln1697Ter) c.5296C>T (p.Gln1766Ter) c.4597C>T (p.Gln1533Ter) c.5344C>T (p.Gln1782Ter) | dbSNP |
16 | g.3729697G>C | CA394557079 | CREBBP | c.5350C>G (p.Gln1784Glu) c.5236C>G (p.Gln1746Glu) c.5305C>G (p.Gln1769Glu) c.4933C>G (p.Gln1645Glu) c.5089C>G (p.Gln1697Glu) c.5296C>G (p.Gln1766Glu) c.4597C>G (p.Gln1533Glu) c.5344C>G (p.Gln1782Glu) | dbSNP |
16 | g.3729697G>T | CA394557080 | CREBBP | c.5350C>A (p.Gln1784Lys) c.5236C>A (p.Gln1746Lys) c.5305C>A (p.Gln1769Lys) c.4933C>A (p.Gln1645Lys) c.5089C>A (p.Gln1697Lys) c.5296C>A (p.Gln1766Lys) c.4597C>A (p.Gln1533Lys) c.5344C>A (p.Gln1782Lys) | |
16 | g.3729698G>A | CA493394183 | CREBBP | c.5349C>T (p.Cys1783=) c.5235C>T (p.Cys1745=) c.5304C>T (p.Cys1768=) c.4932C>T (p.Cys1644=) c.5088C>T (p.Cys1696=) c.5295C>T (p.Cys1765=) c.4596C>T (p.Cys1532=) c.5343C>T (p.Cys1781=) | dbSNP |
16 | g.3729698G>C | CA394557081 | CREBBP | c.5349C>G (p.Cys1783Trp) c.5235C>G (p.Cys1745Trp) c.5304C>G (p.Cys1768Trp) c.4932C>G (p.Cys1644Trp) c.5088C>G (p.Cys1696Trp) c.5295C>G (p.Cys1765Trp) c.4596C>G (p.Cys1532Trp) c.5343C>G (p.Cys1781Trp) | dbSNP |
16 | g.3729698G>T | CA394557082 | CREBBP | c.5349C>A (p.Cys1783Ter) c.5235C>A (p.Cys1745Ter) c.5304C>A (p.Cys1768Ter) c.4932C>A (p.Cys1644Ter) c.5088C>A (p.Cys1696Ter) c.5295C>A (p.Cys1765Ter) c.4596C>A (p.Cys1532Ter) c.5343C>A (p.Cys1781Ter) | |
16 | g.3729699C>A | CA394557083 | CREBBP | c.5348G>T (p.Cys1783Phe) c.5234G>T (p.Cys1745Phe) c.5303G>T (p.Cys1768Phe) c.4931G>T (p.Cys1644Phe) c.5087G>T (p.Cys1696Phe) c.5294G>T (p.Cys1765Phe) c.4595G>T (p.Cys1532Phe) c.5342G>T (p.Cys1781Phe) | ClinVar dbSNP |
16 | g.3729699C>G | CA394557084 | CREBBP | c.5348G>C (p.Cys1783Ser) c.5234G>C (p.Cys1745Ser) c.5303G>C (p.Cys1768Ser) c.4931G>C (p.Cys1644Ser) c.5087G>C (p.Cys1696Ser) c.5294G>C (p.Cys1765Ser) c.4595G>C (p.Cys1532Ser) c.5342G>C (p.Cys1781Ser) | |
16 | g.3729699C>T | CA394557085 | CREBBP | c.5348G>A (p.Cys1783Tyr) c.5234G>A (p.Cys1745Tyr) c.5303G>A (p.Cys1768Tyr) c.4931G>A (p.Cys1644Tyr) c.5087G>A (p.Cys1696Tyr) c.5294G>A (p.Cys1765Tyr) c.4595G>A (p.Cys1532Tyr) c.5342G>A (p.Cys1781Tyr) | |
16 | g.3729700A>C | CA394557086 | CREBBP | c.5347T>G (p.Cys1783Gly) c.5233T>G (p.Cys1745Gly) c.5302T>G (p.Cys1768Gly) c.4930T>G (p.Cys1644Gly) c.5086T>G (p.Cys1696Gly) c.5293T>G (p.Cys1765Gly) c.4594T>G (p.Cys1532Gly) c.5341T>G (p.Cys1781Gly) | dbSNP |
16 | g.3729700A>G | CA394557087 | CREBBP | c.5347T>C (p.Cys1783Arg) c.5233T>C (p.Cys1745Arg) c.5302T>C (p.Cys1768Arg) c.4930T>C (p.Cys1644Arg) c.5086T>C (p.Cys1696Arg) c.5293T>C (p.Cys1765Arg) c.4594T>C (p.Cys1532Arg) c.5341T>C (p.Cys1781Arg) | dbSNP |
16 | g.3729700A>T | CA394557088 | CREBBP | c.5347T>A (p.Cys1783Ser) c.5233T>A (p.Cys1745Ser) c.5302T>A (p.Cys1768Ser) c.4930T>A (p.Cys1644Ser) c.5086T>A (p.Cys1696Ser) c.5293T>A (p.Cys1765Ser) c.4594T>A (p.Cys1532Ser) c.5341T>A (p.Cys1781Ser) | dbSNP |
16 | g.3729701C>A | CA276972275 | CREBBP | c.5346G>T (p.Ala1782=) c.5232G>T (p.Ala1744=) c.5301G>T (p.Ala1767=) c.4929G>T (p.Ala1643=) c.5085G>T (p.Ala1695=) c.5292G>T (p.Ala1764=) c.4593G>T (p.Ala1531=) c.5340G>T (p.Ala1780=) | dbSNP gnomAD v4 |
16 | g.3729701C= | CA2202916496 | CREBBP | c.5346G= (p.Ala1782=) c.5232G= (p.Ala1744=) c.5301G= (p.Ala1767=) c.4929G= (p.Ala1643=) c.5085G= (p.Ala1695=) c.5292G= (p.Ala1764=) c.4593G= (p.Ala1531=) c.5340G= (p.Ala1780=) | |
16 | g.3729701C>G | CA7869290 | CREBBP | c.5346G>C (p.Ala1782=) c.5232G>C (p.Ala1744=) c.5301G>C (p.Ala1767=) c.4929G>C (p.Ala1643=) c.5085G>C (p.Ala1695=) c.5292G>C (p.Ala1764=) c.4593G>C (p.Ala1531=) c.5340G>C (p.Ala1780=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729701C>T | CA7869289 | CREBBP | c.5346G>A (p.Ala1782=) c.5232G>A (p.Ala1744=) c.5301G>A (p.Ala1767=) c.4929G>A (p.Ala1643=) c.5085G>A (p.Ala1695=) c.5292G>A (p.Ala1764=) c.4593G>A (p.Ala1531=) c.5340G>A (p.Ala1780=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729702G>A | CA394557089 | CREBBP | c.5345C>T (p.Ala1782Val) c.5231C>T (p.Ala1744Val) c.5300C>T (p.Ala1767Val) c.4928C>T (p.Ala1643Val) c.5084C>T (p.Ala1695Val) c.5291C>T (p.Ala1764Val) c.4592C>T (p.Ala1531Val) c.5339C>T (p.Ala1780Val) | ClinVar dbSNP gnomAD v4 |
16 | g.3729702G>C | CA394557090 | CREBBP | c.5345C>G (p.Ala1782Gly) c.5231C>G (p.Ala1744Gly) c.5300C>G (p.Ala1767Gly) c.4928C>G (p.Ala1643Gly) c.5084C>G (p.Ala1695Gly) c.5291C>G (p.Ala1764Gly) c.4592C>G (p.Ala1531Gly) c.5339C>G (p.Ala1780Gly) | dbSNP |
16 | g.3729702G= | CA2202916497 | CREBBP | c.5345C= (p.Ala1782=) c.5231C= (p.Ala1744=) c.5300C= (p.Ala1767=) c.4928C= (p.Ala1643=) c.5084C= (p.Ala1695=) c.5291C= (p.Ala1764=) c.4592C= (p.Ala1531=) c.5339C= (p.Ala1780=) | |
16 | g.3729702G>T | CA394557091 | CREBBP | c.5345C>A (p.Ala1782Glu) c.5231C>A (p.Ala1744Glu) c.5300C>A (p.Ala1767Glu) c.4928C>A (p.Ala1643Glu) c.5084C>A (p.Ala1695Glu) c.5291C>A (p.Ala1764Glu) c.4592C>A (p.Ala1531Glu) c.5339C>A (p.Ala1780Glu) | dbSNP |
16 | g.3729703C>A | CA394557092 | CREBBP | c.5344G>T (p.Ala1782Ser) c.5230G>T (p.Ala1744Ser) c.5299G>T (p.Ala1767Ser) c.4927G>T (p.Ala1643Ser) c.5083G>T (p.Ala1695Ser) c.5290G>T (p.Ala1764Ser) c.4591G>T (p.Ala1531Ser) c.5338G>T (p.Ala1780Ser) | dbSNP gnomAD v4 |
16 | g.3729703C= | CA2202916498 | CREBBP | c.5344G= (p.Ala1782=) c.5230G= (p.Ala1744=) c.5299G= (p.Ala1767=) c.4927G= (p.Ala1643=) c.5083G= (p.Ala1695=) c.5290G= (p.Ala1764=) c.4591G= (p.Ala1531=) c.5338G= (p.Ala1780=) | |
16 | g.3729703C>G | CA394557093 | CREBBP | c.5344G>C (p.Ala1782Pro) c.5230G>C (p.Ala1744Pro) c.5299G>C (p.Ala1767Pro) c.4927G>C (p.Ala1643Pro) c.5083G>C (p.Ala1695Pro) c.5290G>C (p.Ala1764Pro) c.4591G>C (p.Ala1531Pro) c.5338G>C (p.Ala1780Pro) | dbSNP |
16 | g.3729703C>T | CA394557094 | CREBBP | c.5344G>A (p.Ala1782Thr) c.5230G>A (p.Ala1744Thr) c.5299G>A (p.Ala1767Thr) c.4927G>A (p.Ala1643Thr) c.5083G>A (p.Ala1695Thr) c.5290G>A (p.Ala1764Thr) c.4591G>A (p.Ala1531Thr) c.5338G>A (p.Ala1780Thr) | ClinVar dbSNP COSMIC |
16 | g.3729704G>A | CA7869291 | CREBBP | c.5343C>T (p.His1781=) c.5229C>T (p.His1743=) c.5298C>T (p.His1766=) c.4926C>T (p.His1642=) c.5082C>T (p.His1694=) c.5289C>T (p.His1763=) c.4590C>T (p.His1530=) c.5337C>T (p.His1779=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729704G>C | CA394557098 | CREBBP | c.5343C>G (p.His1781Gln) c.5229C>G (p.His1743Gln) c.5298C>G (p.His1766Gln) c.4926C>G (p.His1642Gln) c.5082C>G (p.His1694Gln) c.5289C>G (p.His1763Gln) c.4590C>G (p.His1530Gln) c.5337C>G (p.His1779Gln) | dbSNP |
16 | g.3729704G= | CA2202916499 | CREBBP | c.5343C= (p.His1781=) c.5229C= (p.His1743=) c.5298C= (p.His1766=) c.4926C= (p.His1642=) c.5082C= (p.His1694=) c.5289C= (p.His1763=) c.4590C= (p.His1530=) c.5337C= (p.His1779=) | |
16 | g.3729704G>T | CA394557099 | CREBBP | c.5343C>A (p.His1781Gln) c.5229C>A (p.His1743Gln) c.5298C>A (p.His1766Gln) c.4926C>A (p.His1642Gln) c.5082C>A (p.His1694Gln) c.5289C>A (p.His1763Gln) c.4590C>A (p.His1530Gln) c.5337C>A (p.His1779Gln) | |
16 | g.3729705T>A | CA394557102 | CREBBP | c.5342A>T (p.His1781Leu) c.5228A>T (p.His1743Leu) c.5297A>T (p.His1766Leu) c.4925A>T (p.His1642Leu) c.5081A>T (p.His1694Leu) c.5288A>T (p.His1763Leu) c.4589A>T (p.His1530Leu) c.5336A>T (p.His1779Leu) | dbSNP |
16 | g.3729705T>C | CA394557103 | CREBBP | c.5342A>G (p.His1781Arg) c.5228A>G (p.His1743Arg) c.5297A>G (p.His1766Arg) c.4925A>G (p.His1642Arg) c.5081A>G (p.His1694Arg) c.5288A>G (p.His1763Arg) c.4589A>G (p.His1530Arg) c.5336A>G (p.His1779Arg) | dbSNP |
16 | g.3729705T>G | CA394557105 | CREBBP | c.5342A>C (p.His1781Pro) c.5228A>C (p.His1743Pro) c.5297A>C (p.His1766Pro) c.4925A>C (p.His1642Pro) c.5081A>C (p.His1694Pro) c.5288A>C (p.His1763Pro) c.4589A>C (p.His1530Pro) c.5336A>C (p.His1779Pro) | dbSNP |
16 | g.3729706G>A | CA394557110 | CREBBP | c.5341C>T (p.His1781Tyr) c.5227C>T (p.His1743Tyr) c.5296C>T (p.His1766Tyr) c.4924C>T (p.His1642Tyr) c.5080C>T (p.His1694Tyr) c.5287C>T (p.His1763Tyr) c.4588C>T (p.His1530Tyr) c.5335C>T (p.His1779Tyr) | dbSNP gnomAD v4 |
16 | g.3729706G>C | CA394557111 | CREBBP | c.5341C>G (p.His1781Asp) c.5227C>G (p.His1743Asp) c.5296C>G (p.His1766Asp) c.4924C>G (p.His1642Asp) c.5080C>G (p.His1694Asp) c.5287C>G (p.His1763Asp) c.4588C>G (p.His1530Asp) c.5335C>G (p.His1779Asp) | dbSNP |
16 | g.3729706G>T | CA394557108 | CREBBP | c.5341C>A (p.His1781Asn) c.5227C>A (p.His1743Asn) c.5296C>A (p.His1766Asn) c.4924C>A (p.His1642Asn) c.5080C>A (p.His1694Asn) c.5287C>A (p.His1763Asn) c.4588C>A (p.His1530Asn) c.5335C>A (p.His1779Asn) | |
16 | g.3729707C>A | CA493394191 | CREBBP | c.5340G>T (p.Val1780=) c.5226G>T (p.Val1742=) c.5295G>T (p.Val1765=) c.4923G>T (p.Val1641=) c.5079G>T (p.Val1693=) c.5286G>T (p.Val1762=) c.4587G>T (p.Val1529=) c.5334G>T (p.Val1778=) | |
16 | g.3729707C= | CA2202916500 | CREBBP | c.5340G= (p.Val1780=) c.5226G= (p.Val1742=) c.5295G= (p.Val1765=) c.4923G= (p.Val1641=) c.5079G= (p.Val1693=) c.5286G= (p.Val1762=) c.4587G= (p.Val1529=) c.5334G= (p.Val1778=) | |
16 | g.3729707C>G | CA493394192 | CREBBP | c.5340G>C (p.Val1780=) c.5226G>C (p.Val1742=) c.5295G>C (p.Val1765=) c.4923G>C (p.Val1641=) c.5079G>C (p.Val1693=) c.5286G>C (p.Val1762=) c.4587G>C (p.Val1529=) c.5334G>C (p.Val1778=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729707C>T | CA493394193 | CREBBP | c.5340G>A (p.Val1780=) c.5226G>A (p.Val1742=) c.5295G>A (p.Val1765=) c.4923G>A (p.Val1641=) c.5079G>A (p.Val1693=) c.5286G>A (p.Val1762=) c.4587G>A (p.Val1529=) c.5334G>A (p.Val1778=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729708A= | CA2202916501 | CREBBP | c.5339T= (p.Val1780=) c.5225T= (p.Val1742=) c.5294T= (p.Val1765=) c.4922T= (p.Val1641=) c.5078T= (p.Val1693=) c.5285T= (p.Val1762=) c.4586T= (p.Val1529=) c.5333T= (p.Val1778=) | |
16 | g.3729708A>C | CA394557114 | CREBBP | c.5339T>G (p.Val1780Gly) c.5225T>G (p.Val1742Gly) c.5294T>G (p.Val1765Gly) c.4922T>G (p.Val1641Gly) c.5078T>G (p.Val1693Gly) c.5285T>G (p.Val1762Gly) c.4586T>G (p.Val1529Gly) c.5333T>G (p.Val1778Gly) | dbSNP |
16 | g.3729708A>G | CA394557116 | CREBBP | c.5339T>C (p.Val1780Ala) c.5225T>C (p.Val1742Ala) c.5294T>C (p.Val1765Ala) c.4922T>C (p.Val1641Ala) c.5078T>C (p.Val1693Ala) c.5285T>C (p.Val1762Ala) c.4586T>C (p.Val1529Ala) c.5333T>C (p.Val1778Ala) | gnomAD v4 |
16 | g.3729708A>T | CA394557117 | CREBBP | c.5339T>A (p.Val1780Glu) c.5225T>A (p.Val1742Glu) c.5294T>A (p.Val1765Glu) c.4922T>A (p.Val1641Glu) c.5078T>A (p.Val1693Glu) c.5285T>A (p.Val1762Glu) c.4586T>A (p.Val1529Glu) c.5333T>A (p.Val1778Glu) | |
16 | g.3729709C>A | CA394557120 | CREBBP | c.5338G>T (p.Val1780Leu) c.5224G>T (p.Val1742Leu) c.5293G>T (p.Val1765Leu) c.4921G>T (p.Val1641Leu) c.5077G>T (p.Val1693Leu) c.5284G>T (p.Val1762Leu) c.4585G>T (p.Val1529Leu) c.5332G>T (p.Val1778Leu) | |
16 | g.3729709C>G | CA394557121 | CREBBP | c.5338G>C (p.Val1780Leu) c.5224G>C (p.Val1742Leu) c.5293G>C (p.Val1765Leu) c.4921G>C (p.Val1641Leu) c.5077G>C (p.Val1693Leu) c.5284G>C (p.Val1762Leu) c.4585G>C (p.Val1529Leu) c.5332G>C (p.Val1778Leu) | |
16 | g.3729709C>T | CA394557122 | CREBBP | c.5338G>A (p.Val1780Met) c.5224G>A (p.Val1742Met) c.5293G>A (p.Val1765Met) c.4921G>A (p.Val1641Met) c.5077G>A (p.Val1693Met) c.5284G>A (p.Val1762Met) c.4585G>A (p.Val1529Met) c.5332G>A (p.Val1778Met) | |
16 | g.3729710C>A | CA493394196 | CREBBP | c.5337G>T (p.Leu1779=) c.5223G>T (p.Leu1741=) c.5292G>T (p.Leu1764=) c.4920G>T (p.Leu1640=) c.5076G>T (p.Leu1692=) c.5283G>T (p.Leu1761=) c.4584G>T (p.Leu1528=) c.5331G>T (p.Leu1777=) | |
16 | g.3729710C= | CA2202916502 | CREBBP | c.5337G= (p.Leu1779=) c.5223G= (p.Leu1741=) c.5292G= (p.Leu1764=) c.4920G= (p.Leu1640=) c.5076G= (p.Leu1692=) c.5283G= (p.Leu1761=) c.4584G= (p.Leu1528=) c.5331G= (p.Leu1777=) | |
16 | g.3729710C>G | CA493394197 | CREBBP | c.5337G>C (p.Leu1779=) c.5223G>C (p.Leu1741=) c.5292G>C (p.Leu1764=) c.4920G>C (p.Leu1640=) c.5076G>C (p.Leu1692=) c.5283G>C (p.Leu1761=) c.4584G>C (p.Leu1528=) c.5331G>C (p.Leu1777=) | |
16 | g.3729710C>T | CA493394198 | CREBBP | c.5337G>A (p.Leu1779=) c.5223G>A (p.Leu1741=) c.5292G>A (p.Leu1764=) c.4920G>A (p.Leu1640=) c.5076G>A (p.Leu1692=) c.5283G>A (p.Leu1761=) c.4584G>A (p.Leu1528=) c.5331G>A (p.Leu1777=) | dbSNP gnomAD v2 |
16 | g.3729711A= | CA2202916503 | CREBBP | c.5336T= (p.Leu1779=) c.5222T= (p.Leu1741=) c.5291T= (p.Leu1764=) c.4919T= (p.Leu1640=) c.5075T= (p.Leu1692=) c.5282T= (p.Leu1761=) c.4583T= (p.Leu1528=) c.5330T= (p.Leu1777=) | |
16 | g.3729711A>C | CA394557124 | CREBBP | c.5336T>G (p.Leu1779Arg) c.5222T>G (p.Leu1741Arg) c.5291T>G (p.Leu1764Arg) c.4919T>G (p.Leu1640Arg) c.5075T>G (p.Leu1692Arg) c.5282T>G (p.Leu1761Arg) c.4583T>G (p.Leu1528Arg) c.5330T>G (p.Leu1777Arg) | |
16 | g.3729711A>G | CA16620201 | CREBBP | c.5336T>C (p.Leu1779Pro) c.5222T>C (p.Leu1741Pro) c.5291T>C (p.Leu1764Pro) c.4919T>C (p.Leu1640Pro) c.5075T>C (p.Leu1692Pro) c.5282T>C (p.Leu1761Pro) c.4583T>C (p.Leu1528Pro) c.5330T>C (p.Leu1777Pro) | ClinVar dbSNP |
16 | g.3729711A>T | CA394557127 | CREBBP | c.5336T>A (p.Leu1779Gln) c.5222T>A (p.Leu1741Gln) c.5291T>A (p.Leu1764Gln) c.4919T>A (p.Leu1640Gln) c.5075T>A (p.Leu1692Gln) c.5282T>A (p.Leu1761Gln) c.4583T>A (p.Leu1528Gln) c.5330T>A (p.Leu1777Gln) | dbSNP |
16 | g.3729712G>A | CA493394199 | CREBBP | c.5335C>T (p.Leu1779=) c.5221C>T (p.Leu1741=) c.5290C>T (p.Leu1764=) c.4918C>T (p.Leu1640=) c.5074C>T (p.Leu1692=) c.5281C>T (p.Leu1761=) c.4582C>T (p.Leu1528=) c.5329C>T (p.Leu1777=) | dbSNP |
16 | g.3729712G>C | CA394557129 | CREBBP | c.5335C>G (p.Leu1779Val) c.5221C>G (p.Leu1741Val) c.5290C>G (p.Leu1764Val) c.4918C>G (p.Leu1640Val) c.5074C>G (p.Leu1692Val) c.5281C>G (p.Leu1761Val) c.4582C>G (p.Leu1528Val) c.5329C>G (p.Leu1777Val) | dbSNP |
16 | g.3729712G>T | CA394557130 | CREBBP | c.5335C>A (p.Leu1779Met) c.5221C>A (p.Leu1741Met) c.5290C>A (p.Leu1764Met) c.4918C>A (p.Leu1640Met) c.5074C>A (p.Leu1692Met) c.5281C>A (p.Leu1761Met) c.4582C>A (p.Leu1528Met) c.5329C>A (p.Leu1777Met) | |
16 | g.3729713C>A | CA493394200 | CREBBP | c.5334G>T (p.Ser1778=) c.5220G>T (p.Ser1740=) c.5289G>T (p.Ser1763=) c.4917G>T (p.Ser1639=) c.5073G>T (p.Ser1691=) c.5280G>T (p.Ser1760=) c.4581G>T (p.Ser1527=) c.5328G>T (p.Ser1776=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729713C= | CA2202916504 | CREBBP | c.5334G= (p.Ser1778=) c.5220G= (p.Ser1740=) c.5289G= (p.Ser1763=) c.4917G= (p.Ser1639=) c.5073G= (p.Ser1691=) c.5280G= (p.Ser1760=) c.4581G= (p.Ser1527=) c.5328G= (p.Ser1776=) | |
16 | g.3729713C>G | CA493394201 | CREBBP | c.5334G>C (p.Ser1778=) c.5220G>C (p.Ser1740=) c.5289G>C (p.Ser1763=) c.4917G>C (p.Ser1639=) c.5073G>C (p.Ser1691=) c.5280G>C (p.Ser1760=) c.4581G>C (p.Ser1527=) c.5328G>C (p.Ser1776=) | dbSNP |
16 | g.3729713C>T | CA7869292 | CREBBP | c.5334G>A (p.Ser1778=) c.5220G>A (p.Ser1740=) c.5289G>A (p.Ser1763=) c.4917G>A (p.Ser1639=) c.5073G>A (p.Ser1691=) c.5280G>A (p.Ser1760=) c.4581G>A (p.Ser1527=) c.5328G>A (p.Ser1776=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729714G>A | CA394557134 | CREBBP | c.5333C>T (p.Ser1778Leu) c.5219C>T (p.Ser1740Leu) c.5288C>T (p.Ser1763Leu) c.4916C>T (p.Ser1639Leu) c.5072C>T (p.Ser1691Leu) c.5279C>T (p.Ser1760Leu) c.4580C>T (p.Ser1527Leu) c.5327C>T (p.Ser1776Leu) | ClinVar dbSNP gnomAD v2 COSMIC |
16 | g.3729714G>C | CA394557136 | CREBBP | c.5333C>G (p.Ser1778Trp) c.5219C>G (p.Ser1740Trp) c.5288C>G (p.Ser1763Trp) c.4916C>G (p.Ser1639Trp) c.5072C>G (p.Ser1691Trp) c.5279C>G (p.Ser1760Trp) c.4580C>G (p.Ser1527Trp) c.5327C>G (p.Ser1776Trp) | dbSNP |
16 | g.3729714G= | CA2202916505 | CREBBP | c.5333C= (p.Ser1778=) c.5219C= (p.Ser1740=) c.5288C= (p.Ser1763=) c.4916C= (p.Ser1639=) c.5072C= (p.Ser1691=) c.5279C= (p.Ser1760=) c.4580C= (p.Ser1527=) c.5327C= (p.Ser1776=) | |
16 | g.3729714G>T | CA394557132 | CREBBP | c.5333C>A (p.Ser1778Ter) c.5219C>A (p.Ser1740Ter) c.5288C>A (p.Ser1763Ter) c.4916C>A (p.Ser1639Ter) c.5072C>A (p.Ser1691Ter) c.5279C>A (p.Ser1760Ter) c.4580C>A (p.Ser1527Ter) c.5327C>A (p.Ser1776Ter) | dbSNP |
16 | g.3729715A>C | CA394557137 | CREBBP | c.5332T>G (p.Ser1778Ala) c.5218T>G (p.Ser1740Ala) c.5287T>G (p.Ser1763Ala) c.4915T>G (p.Ser1639Ala) c.5071T>G (p.Ser1691Ala) c.5278T>G (p.Ser1760Ala) c.4579T>G (p.Ser1527Ala) c.5326T>G (p.Ser1776Ala) | |
16 | g.3729715A>G | CA394557138 | CREBBP | c.5332T>C (p.Ser1778Pro) c.5218T>C (p.Ser1740Pro) c.5287T>C (p.Ser1763Pro) c.4915T>C (p.Ser1639Pro) c.5071T>C (p.Ser1691Pro) c.5278T>C (p.Ser1760Pro) c.4579T>C (p.Ser1527Pro) c.5326T>C (p.Ser1776Pro) | |
16 | g.3729715A>T | CA394557140 | CREBBP | c.5332T>A (p.Ser1778Thr) c.5218T>A (p.Ser1740Thr) c.5287T>A (p.Ser1763Thr) c.4915T>A (p.Ser1639Thr) c.5071T>A (p.Ser1691Thr) c.5278T>A (p.Ser1760Thr) c.4579T>A (p.Ser1527Thr) c.5326T>A (p.Ser1776Thr) | |
16 | g.3729716C>A | CA7869293 | CREBBP | c.5331G>T (p.Gln1777His) c.5217G>T (p.Gln1739His) c.5286G>T (p.Gln1762His) c.4914G>T (p.Gln1638His) c.5070G>T (p.Gln1690His) c.5277G>T (p.Gln1759His) c.4578G>T (p.Gln1526His) c.5325G>T (p.Gln1775His) | dbSNP ExAC gnomAD v2 |
16 | g.3729716C= | CA2202916506 | CREBBP | c.5331G= (p.Gln1777=) c.5217G= (p.Gln1739=) c.5286G= (p.Gln1762=) c.4914G= (p.Gln1638=) c.5070G= (p.Gln1690=) c.5277G= (p.Gln1759=) c.4578G= (p.Gln1526=) c.5325G= (p.Gln1775=) | |
16 | g.3729716C>G | CA394557142 | CREBBP | c.5331G>C (p.Gln1777His) c.5217G>C (p.Gln1739His) c.5286G>C (p.Gln1762His) c.4914G>C (p.Gln1638His) c.5070G>C (p.Gln1690His) c.5277G>C (p.Gln1759His) c.4578G>C (p.Gln1526His) c.5325G>C (p.Gln1775His) | dbSNP |
16 | g.3729716C>T | CA493394202 | CREBBP | c.5331G>A (p.Gln1777=) c.5217G>A (p.Gln1739=) c.5286G>A (p.Gln1762=) c.4914G>A (p.Gln1638=) c.5070G>A (p.Gln1690=) c.5277G>A (p.Gln1759=) c.4578G>A (p.Gln1526=) c.5325G>A (p.Gln1775=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729717T>A | CA394557147 | CREBBP | c.5330A>T (p.Gln1777Leu) c.5216A>T (p.Gln1739Leu) c.5285A>T (p.Gln1762Leu) c.4913A>T (p.Gln1638Leu) c.5069A>T (p.Gln1690Leu) c.5276A>T (p.Gln1759Leu) c.4577A>T (p.Gln1526Leu) c.5324A>T (p.Gln1775Leu) | |
16 | g.3729717T>C | CA394557146 | CREBBP | c.5330A>G (p.Gln1777Arg) c.5216A>G (p.Gln1739Arg) c.5285A>G (p.Gln1762Arg) c.4913A>G (p.Gln1638Arg) c.5069A>G (p.Gln1690Arg) c.5276A>G (p.Gln1759Arg) c.4577A>G (p.Gln1526Arg) c.5324A>G (p.Gln1775Arg) | |
16 | g.3729717T>G | CA394557144 | CREBBP | c.5330A>C (p.Gln1777Pro) c.5216A>C (p.Gln1739Pro) c.5285A>C (p.Gln1762Pro) c.4913A>C (p.Gln1638Pro) c.5069A>C (p.Gln1690Pro) c.5276A>C (p.Gln1759Pro) c.4577A>C (p.Gln1526Pro) c.5324A>C (p.Gln1775Pro) | |
16 | g.3729718G>A | CA394557149 | CREBBP | c.5329C>T (p.Gln1777Ter) c.5215C>T (p.Gln1739Ter) c.5284C>T (p.Gln1762Ter) c.4912C>T (p.Gln1638Ter) c.5068C>T (p.Gln1690Ter) c.5275C>T (p.Gln1759Ter) c.4576C>T (p.Gln1526Ter) c.5323C>T (p.Gln1775Ter) | dbSNP |
16 | g.3729718G>C | CA394557151 | CREBBP | c.5329C>G (p.Gln1777Glu) c.5215C>G (p.Gln1739Glu) c.5284C>G (p.Gln1762Glu) c.4912C>G (p.Gln1638Glu) c.5068C>G (p.Gln1690Glu) c.5275C>G (p.Gln1759Glu) c.4576C>G (p.Gln1526Glu) c.5323C>G (p.Gln1775Glu) | dbSNP |
16 | g.3729718G>T | CA394557153 | CREBBP | c.5329C>A (p.Gln1777Lys) c.5215C>A (p.Gln1739Lys) c.5284C>A (p.Gln1762Lys) c.4912C>A (p.Gln1638Lys) c.5068C>A (p.Gln1690Lys) c.5275C>A (p.Gln1759Lys) c.4576C>A (p.Gln1526Lys) c.5323C>A (p.Gln1775Lys) | |
16 | g.3729719G>A | CA493394203 | CREBBP | c.5328C>T (p.Ile1776=) c.5214C>T (p.Ile1738=) c.5283C>T (p.Ile1761=) c.4911C>T (p.Ile1637=) c.5067C>T (p.Ile1689=) c.5274C>T (p.Ile1758=) c.4575C>T (p.Ile1525=) c.5322C>T (p.Ile1774=) | dbSNP |
16 | g.3729719G>C | CA394557155 | CREBBP | c.5328C>G (p.Ile1776Met) c.5214C>G (p.Ile1738Met) c.5283C>G (p.Ile1761Met) c.4911C>G (p.Ile1637Met) c.5067C>G (p.Ile1689Met) c.5274C>G (p.Ile1758Met) c.4575C>G (p.Ile1525Met) c.5322C>G (p.Ile1774Met) | dbSNP |
16 | g.3729719G= | CA2202916507 | CREBBP | c.5328C= (p.Ile1776=) c.5214C= (p.Ile1738=) c.5283C= (p.Ile1761=) c.4911C= (p.Ile1637=) c.5067C= (p.Ile1689=) c.5274C= (p.Ile1758=) c.4575C= (p.Ile1525=) c.5322C= (p.Ile1774=) | |
16 | g.3729719G>T | CA493394206 | CREBBP | c.5328C>A (p.Ile1776=) c.5214C>A (p.Ile1738=) c.5283C>A (p.Ile1761=) c.4911C>A (p.Ile1637=) c.5067C>A (p.Ile1689=) c.5274C>A (p.Ile1758=) c.4575C>A (p.Ile1525=) c.5322C>A (p.Ile1774=) | |
16 | g.3729720A>C | CA394557157 | CREBBP | c.5327T>G (p.Ile1776Ser) c.5213T>G (p.Ile1738Ser) c.5282T>G (p.Ile1761Ser) c.4910T>G (p.Ile1637Ser) c.5066T>G (p.Ile1689Ser) c.5273T>G (p.Ile1758Ser) c.4574T>G (p.Ile1525Ser) c.5321T>G (p.Ile1774Ser) | |
16 | g.3729720A>G | CA394557159 | CREBBP | c.5327T>C (p.Ile1776Thr) c.5213T>C (p.Ile1738Thr) c.5282T>C (p.Ile1761Thr) c.4910T>C (p.Ile1637Thr) c.5066T>C (p.Ile1689Thr) c.5273T>C (p.Ile1758Thr) c.4574T>C (p.Ile1525Thr) c.5321T>C (p.Ile1774Thr) | dbSNP |
16 | g.3729720A>T | CA394557160 | CREBBP | c.5327T>A (p.Ile1776Asn) c.5213T>A (p.Ile1738Asn) c.5282T>A (p.Ile1761Asn) c.4910T>A (p.Ile1637Asn) c.5066T>A (p.Ile1689Asn) c.5273T>A (p.Ile1758Asn) c.4574T>A (p.Ile1525Asn) c.5321T>A (p.Ile1774Asn) | dbSNP |
16 | g.3729721T>A | CA394557164 | CREBBP | c.5326A>T (p.Ile1776Phe) c.5212A>T (p.Ile1738Phe) c.5281A>T (p.Ile1761Phe) c.4909A>T (p.Ile1637Phe) c.5065A>T (p.Ile1689Phe) c.5272A>T (p.Ile1758Phe) c.4573A>T (p.Ile1525Phe) c.5320A>T (p.Ile1774Phe) | dbSNP |
16 | g.3729721T>C | CA394557162 | CREBBP | c.5326A>G (p.Ile1776Val) c.5212A>G (p.Ile1738Val) c.5281A>G (p.Ile1761Val) c.4909A>G (p.Ile1637Val) c.5065A>G (p.Ile1689Val) c.5272A>G (p.Ile1758Val) c.4573A>G (p.Ile1525Val) c.5320A>G (p.Ile1774Val) | |
16 | g.3729721T>G | CA394557161 | CREBBP | c.5326A>C (p.Ile1776Leu) c.5212A>C (p.Ile1738Leu) c.5281A>C (p.Ile1761Leu) c.4909A>C (p.Ile1637Leu) c.5065A>C (p.Ile1689Leu) c.5272A>C (p.Ile1758Leu) c.4573A>C (p.Ile1525Leu) c.5320A>C (p.Ile1774Leu) | dbSNP |
16 | g.3729722G>A | CA7869294 | CREBBP | c.5325C>T (p.Cys1775=) c.5211C>T (p.Cys1737=) c.5280C>T (p.Cys1760=) c.4908C>T (p.Cys1636=) c.5064C>T (p.Cys1688=) c.5271C>T (p.Cys1757=) c.4572C>T (p.Cys1524=) c.5319C>T (p.Cys1773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729722G>C | CA394557169 | CREBBP | c.5325C>G (p.Cys1775Trp) c.5211C>G (p.Cys1737Trp) c.5280C>G (p.Cys1760Trp) c.4908C>G (p.Cys1636Trp) c.5064C>G (p.Cys1688Trp) c.5271C>G (p.Cys1757Trp) c.4572C>G (p.Cys1524Trp) c.5319C>G (p.Cys1773Trp) | dbSNP |
16 | g.3729722G= | CA2202916508 | CREBBP | c.5325C= (p.Cys1775=) c.5211C= (p.Cys1737=) c.5280C= (p.Cys1760=) c.4908C= (p.Cys1636=) c.5064C= (p.Cys1688=) c.5271C= (p.Cys1757=) c.4572C= (p.Cys1524=) c.5319C= (p.Cys1773=) | |
16 | g.3729722G>T | CA394557167 | CREBBP | c.5325C>A (p.Cys1775Ter) c.5211C>A (p.Cys1737Ter) c.5280C>A (p.Cys1760Ter) c.4908C>A (p.Cys1636Ter) c.5064C>A (p.Cys1688Ter) c.5271C>A (p.Cys1757Ter) c.4572C>A (p.Cys1524Ter) c.5319C>A (p.Cys1773Ter) | |
16 | g.3729723C>A | CA394557171 | CREBBP | c.5324G>T (p.Cys1775Phe) c.5210G>T (p.Cys1737Phe) c.5279G>T (p.Cys1760Phe) c.4907G>T (p.Cys1636Phe) c.5063G>T (p.Cys1688Phe) c.5270G>T (p.Cys1757Phe) c.4571G>T (p.Cys1524Phe) c.5318G>T (p.Cys1773Phe) | |
16 | g.3729723C>G | CA394557172 | CREBBP | c.5324G>C (p.Cys1775Ser) c.5210G>C (p.Cys1737Ser) c.5279G>C (p.Cys1760Ser) c.4907G>C (p.Cys1636Ser) c.5063G>C (p.Cys1688Ser) c.5270G>C (p.Cys1757Ser) c.4571G>C (p.Cys1524Ser) c.5318G>C (p.Cys1773Ser) | dbSNP |
16 | g.3729723C>T | CA394557174 | CREBBP | c.5324G>A (p.Cys1775Tyr) c.5210G>A (p.Cys1737Tyr) c.5279G>A (p.Cys1760Tyr) c.4907G>A (p.Cys1636Tyr) c.5063G>A (p.Cys1688Tyr) c.5270G>A (p.Cys1757Tyr) c.4571G>A (p.Cys1524Tyr) c.5318G>A (p.Cys1773Tyr) | dbSNP gnomAD v4 |
16 | g.3729724A= | CA2202916509 | CREBBP | c.5323T= (p.Cys1775=) c.5209T= (p.Cys1737=) c.5278T= (p.Cys1760=) c.4906T= (p.Cys1636=) c.5062T= (p.Cys1688=) c.5269T= (p.Cys1757=) c.4570T= (p.Cys1524=) c.5317T= (p.Cys1773=) | |
16 | g.3729724A>C | CA394557176 | CREBBP | c.5323T>G (p.Cys1775Gly) c.5209T>G (p.Cys1737Gly) c.5278T>G (p.Cys1760Gly) c.4906T>G (p.Cys1636Gly) c.5062T>G (p.Cys1688Gly) c.5269T>G (p.Cys1757Gly) c.4570T>G (p.Cys1524Gly) c.5317T>G (p.Cys1773Gly) | |
16 | g.3729724A>G | CA16607414 | CREBBP | c.5323T>C (p.Cys1775Arg) c.5209T>C (p.Cys1737Arg) c.5278T>C (p.Cys1760Arg) c.4906T>C (p.Cys1636Arg) c.5062T>C (p.Cys1688Arg) c.5269T>C (p.Cys1757Arg) c.4570T>C (p.Cys1524Arg) c.5317T>C (p.Cys1773Arg) | ClinVar dbSNP |
16 | g.3729724A>T | CA394557177 | CREBBP | c.5323T>A (p.Cys1775Ser) c.5209T>A (p.Cys1737Ser) c.5278T>A (p.Cys1760Ser) c.4906T>A (p.Cys1636Ser) c.5062T>A (p.Cys1688Ser) c.5269T>A (p.Cys1757Ser) c.4570T>A (p.Cys1524Ser) c.5317T>A (p.Cys1773Ser) | dbSNP |
16 | g.3729725G>A | CA493394210 | CREBBP | c.5322C>T (p.Arg1774=) c.5208C>T (p.Arg1736=) c.5277C>T (p.Arg1759=) c.4905C>T (p.Arg1635=) c.5061C>T (p.Arg1687=) c.5268C>T (p.Arg1756=) c.4569C>T (p.Arg1523=) c.5316C>T (p.Arg1772=) | dbSNP |
16 | g.3729725G>C | CA493394212 | CREBBP | c.5322C>G (p.Arg1774=) c.5208C>G (p.Arg1736=) c.5277C>G (p.Arg1759=) c.4905C>G (p.Arg1635=) c.5061C>G (p.Arg1687=) c.5268C>G (p.Arg1756=) c.4569C>G (p.Arg1523=) c.5316C>G (p.Arg1772=) | dbSNP |
16 | g.3729725G>T | CA493394211 | CREBBP | c.5322C>A (p.Arg1774=) c.5208C>A (p.Arg1736=) c.5277C>A (p.Arg1759=) c.4905C>A (p.Arg1635=) c.5061C>A (p.Arg1687=) c.5268C>A (p.Arg1756=) c.4569C>A (p.Arg1523=) c.5316C>A (p.Arg1772=) | |
16 | g.3729726C>A | CA394557179 | CREBBP | c.5321G>T (p.Arg1774Leu) c.5207G>T (p.Arg1736Leu) c.5276G>T (p.Arg1759Leu) c.4904G>T (p.Arg1635Leu) c.5060G>T (p.Arg1687Leu) c.5267G>T (p.Arg1756Leu) c.4568G>T (p.Arg1523Leu) c.5315G>T (p.Arg1772Leu) | gnomAD v4 |
16 | g.3729726C>G | CA394557181 | CREBBP | c.5321G>C (p.Arg1774Pro) c.5207G>C (p.Arg1736Pro) c.5276G>C (p.Arg1759Pro) c.4904G>C (p.Arg1635Pro) c.5060G>C (p.Arg1687Pro) c.5267G>C (p.Arg1756Pro) c.4568G>C (p.Arg1523Pro) c.5315G>C (p.Arg1772Pro) | dbSNP |
16 | g.3729726C>T | CA394557183 | CREBBP | c.5321G>A (p.Arg1774His) c.5207G>A (p.Arg1736His) c.5276G>A (p.Arg1759His) c.4904G>A (p.Arg1635His) c.5060G>A (p.Arg1687His) c.5267G>A (p.Arg1756His) c.4568G>A (p.Arg1523His) c.5315G>A (p.Arg1772His) | gnomAD v4 |
16 | g.3729727G>A | CA394557185 | CREBBP | c.5320C>T (p.Arg1774Cys) c.5206C>T (p.Arg1736Cys) c.5275C>T (p.Arg1759Cys) c.4903C>T (p.Arg1635Cys) c.5059C>T (p.Arg1687Cys) c.5266C>T (p.Arg1756Cys) c.4567C>T (p.Arg1523Cys) c.5314C>T (p.Arg1772Cys) | dbSNP gnomAD v4 |
16 | g.3729727G>C | CA394557187 | CREBBP | c.5320C>G (p.Arg1774Gly) c.5206C>G (p.Arg1736Gly) c.5275C>G (p.Arg1759Gly) c.4903C>G (p.Arg1635Gly) c.5059C>G (p.Arg1687Gly) c.5266C>G (p.Arg1756Gly) c.4567C>G (p.Arg1523Gly) c.5314C>G (p.Arg1772Gly) | dbSNP |
16 | g.3729727G>T | CA394557189 | CREBBP | c.5320C>A (p.Arg1774Ser) c.5206C>A (p.Arg1736Ser) c.5275C>A (p.Arg1759Ser) c.4903C>A (p.Arg1635Ser) c.5059C>A (p.Arg1687Ser) c.5266C>A (p.Arg1756Ser) c.4567C>A (p.Arg1523Ser) c.5314C>A (p.Arg1772Ser) | dbSNP gnomAD v4 |
16 | g.3729728C>A | CA394557193 | CREBBP | c.5319G>T (p.Gln1773His) c.5205G>T (p.Gln1735His) c.5274G>T (p.Gln1758His) c.4902G>T (p.Gln1634His) c.5058G>T (p.Gln1686His) c.5265G>T (p.Gln1755His) c.4566G>T (p.Gln1522His) c.5313G>T (p.Gln1771His) | |
16 | g.3729728C= | CA2202916510 | CREBBP | c.5319G= (p.Gln1773=) c.5205G= (p.Gln1735=) c.5274G= (p.Gln1758=) c.4902G= (p.Gln1634=) c.5058G= (p.Gln1686=) c.5265G= (p.Gln1755=) c.4566G= (p.Gln1522=) c.5313G= (p.Gln1771=) | |
16 | g.3729728C>G | CA394557192 | CREBBP | c.5319G>C (p.Gln1773His) c.5205G>C (p.Gln1735His) c.5274G>C (p.Gln1758His) c.4902G>C (p.Gln1634His) c.5058G>C (p.Gln1686His) c.5265G>C (p.Gln1755His) c.4566G>C (p.Gln1522His) c.5313G>C (p.Gln1771His) | dbSNP |
16 | g.3729728C>T | CA493394213 | CREBBP | c.5319G>A (p.Gln1773=) c.5205G>A (p.Gln1735=) c.5274G>A (p.Gln1758=) c.4902G>A (p.Gln1634=) c.5058G>A (p.Gln1686=) c.5265G>A (p.Gln1755=) c.4566G>A (p.Gln1522=) c.5313G>A (p.Gln1771=) | dbSNP gnomAD v4 |
16 | g.3729729T>A | CA394557195 | CREBBP | c.5318A>T (p.Gln1773Leu) c.5204A>T (p.Gln1735Leu) c.5273A>T (p.Gln1758Leu) c.4901A>T (p.Gln1634Leu) c.5057A>T (p.Gln1686Leu) c.5264A>T (p.Gln1755Leu) c.4565A>T (p.Gln1522Leu) c.5312A>T (p.Gln1771Leu) | |
16 | g.3729729T>C | CA394557197 | CREBBP | c.5318A>G (p.Gln1773Arg) c.5204A>G (p.Gln1735Arg) c.5273A>G (p.Gln1758Arg) c.4901A>G (p.Gln1634Arg) c.5057A>G (p.Gln1686Arg) c.5264A>G (p.Gln1755Arg) c.4565A>G (p.Gln1522Arg) c.5312A>G (p.Gln1771Arg) | |
16 | g.3729729T>G | CA394557199 | CREBBP | c.5318A>C (p.Gln1773Pro) c.5204A>C (p.Gln1735Pro) c.5273A>C (p.Gln1758Pro) c.4901A>C (p.Gln1634Pro) c.5057A>C (p.Gln1686Pro) c.5264A>C (p.Gln1755Pro) c.4565A>C (p.Gln1522Pro) c.5312A>C (p.Gln1771Pro) | |
16 | g.3729730G>A | CA394557201 | CREBBP | c.5317C>T (p.Gln1773Ter) c.5203C>T (p.Gln1735Ter) c.5272C>T (p.Gln1758Ter) c.4900C>T (p.Gln1634Ter) c.5056C>T (p.Gln1686Ter) c.5263C>T (p.Gln1755Ter) c.4564C>T (p.Gln1522Ter) c.5311C>T (p.Gln1771Ter) | |
16 | g.3729730G>C | CA394557203 | CREBBP | c.5317C>G (p.Gln1773Glu) c.5203C>G (p.Gln1735Glu) c.5272C>G (p.Gln1758Glu) c.4900C>G (p.Gln1634Glu) c.5056C>G (p.Gln1686Glu) c.5263C>G (p.Gln1755Glu) c.4564C>G (p.Gln1522Glu) c.5311C>G (p.Gln1771Glu) | |
16 | g.3729730G>T | CA394557205 | CREBBP | c.5317C>A (p.Gln1773Lys) c.5203C>A (p.Gln1735Lys) c.5272C>A (p.Gln1758Lys) c.4900C>A (p.Gln1634Lys) c.5056C>A (p.Gln1686Lys) c.5263C>A (p.Gln1755Lys) c.4564C>A (p.Gln1522Lys) c.5311C>A (p.Gln1771Lys) | |
16 | g.3729731G>A | CA493394217 | CREBBP | c.5316C>T (p.Ile1772=) c.5202C>T (p.Ile1734=) c.5271C>T (p.Ile1757=) c.4899C>T (p.Ile1633=) c.5055C>T (p.Ile1685=) c.5262C>T (p.Ile1754=) c.4563C>T (p.Ile1521=) c.5310C>T (p.Ile1770=) | |
16 | g.3729731G>C | CA394557207 | CREBBP | c.5316C>G (p.Ile1772Met) c.5202C>G (p.Ile1734Met) c.5271C>G (p.Ile1757Met) c.4899C>G (p.Ile1633Met) c.5055C>G (p.Ile1685Met) c.5262C>G (p.Ile1754Met) c.4563C>G (p.Ile1521Met) c.5310C>G (p.Ile1770Met) | |
16 | g.3729731G>T | CA493394218 | CREBBP | c.5316C>A (p.Ile1772=) c.5202C>A (p.Ile1734=) c.5271C>A (p.Ile1757=) c.4899C>A (p.Ile1633=) c.5055C>A (p.Ile1685=) c.5262C>A (p.Ile1754=) c.4563C>A (p.Ile1521=) c.5310C>A (p.Ile1770=) | gnomAD v4 |
16 | g.3729732A>C | CA394557213 | CREBBP | c.5315T>G (p.Ile1772Ser) c.5201T>G (p.Ile1734Ser) c.5270T>G (p.Ile1757Ser) c.4898T>G (p.Ile1633Ser) c.5054T>G (p.Ile1685Ser) c.5261T>G (p.Ile1754Ser) c.4562T>G (p.Ile1521Ser) c.5309T>G (p.Ile1770Ser) | dbSNP |
16 | g.3729732A>G | CA394557209 | CREBBP | c.5315T>C (p.Ile1772Thr) c.5201T>C (p.Ile1734Thr) c.5270T>C (p.Ile1757Thr) c.4898T>C (p.Ile1633Thr) c.5054T>C (p.Ile1685Thr) c.5261T>C (p.Ile1754Thr) c.4562T>C (p.Ile1521Thr) c.5309T>C (p.Ile1770Thr) | dbSNP |
16 | g.3729732A>T | CA394557211 | CREBBP | c.5315T>A (p.Ile1772Asn) c.5201T>A (p.Ile1734Asn) c.5270T>A (p.Ile1757Asn) c.4898T>A (p.Ile1633Asn) c.5054T>A (p.Ile1685Asn) c.5261T>A (p.Ile1754Asn) c.4562T>A (p.Ile1521Asn) c.5309T>A (p.Ile1770Asn) | ClinVar dbSNP |
16 | g.3729733T>A | CA394557215 | CREBBP | c.5314A>T (p.Ile1772Phe) c.5200A>T (p.Ile1734Phe) c.5269A>T (p.Ile1757Phe) c.4897A>T (p.Ile1633Phe) c.5053A>T (p.Ile1685Phe) c.5260A>T (p.Ile1754Phe) c.4561A>T (p.Ile1521Phe) c.5308A>T (p.Ile1770Phe) | dbSNP |
16 | g.3729733T>C | CA394557217 | CREBBP | c.5314A>G (p.Ile1772Val) c.5200A>G (p.Ile1734Val) c.5269A>G (p.Ile1757Val) c.4897A>G (p.Ile1633Val) c.5053A>G (p.Ile1685Val) c.5260A>G (p.Ile1754Val) c.4561A>G (p.Ile1521Val) c.5308A>G (p.Ile1770Val) | |
16 | g.3729733T>G | CA394557219 | CREBBP | c.5314A>C (p.Ile1772Leu) c.5200A>C (p.Ile1734Leu) c.5269A>C (p.Ile1757Leu) c.4897A>C (p.Ile1633Leu) c.5053A>C (p.Ile1685Leu) c.5260A>C (p.Ile1754Leu) c.4561A>C (p.Ile1521Leu) c.5308A>C (p.Ile1770Leu) | dbSNP |
16 | g.3729734G>A | CA493394219 | CREBBP | c.5313C>T (p.Ser1771=) c.5199C>T (p.Ser1733=) c.5268C>T (p.Ser1756=) c.4896C>T (p.Ser1632=) c.5052C>T (p.Ser1684=) c.5259C>T (p.Ser1753=) c.4560C>T (p.Ser1520=) c.5307C>T (p.Ser1769=) | dbSNP gnomAD v4 |
16 | g.3729734G>C | CA394557221 | CREBBP | c.5313C>G (p.Ser1771Arg) c.5199C>G (p.Ser1733Arg) c.5268C>G (p.Ser1756Arg) c.4896C>G (p.Ser1632Arg) c.5052C>G (p.Ser1684Arg) c.5259C>G (p.Ser1753Arg) c.4560C>G (p.Ser1520Arg) c.5307C>G (p.Ser1769Arg) | dbSNP |
16 | g.3729734G>T | CA394557223 | CREBBP | c.5313C>A (p.Ser1771Arg) c.5199C>A (p.Ser1733Arg) c.5268C>A (p.Ser1756Arg) c.4896C>A (p.Ser1632Arg) c.5052C>A (p.Ser1684Arg) c.5259C>A (p.Ser1753Arg) c.4560C>A (p.Ser1520Arg) c.5307C>A (p.Ser1769Arg) | |
16 | g.3729735C>A | CA394557225 | CREBBP | c.5312G>T (p.Ser1771Ile) c.5198G>T (p.Ser1733Ile) c.5267G>T (p.Ser1756Ile) c.4895G>T (p.Ser1632Ile) c.5051G>T (p.Ser1684Ile) c.5258G>T (p.Ser1753Ile) c.4559G>T (p.Ser1520Ile) c.5306G>T (p.Ser1769Ile) | |
16 | g.3729735C>G | CA394557228 | CREBBP | c.5312G>C (p.Ser1771Thr) c.5198G>C (p.Ser1733Thr) c.5267G>C (p.Ser1756Thr) c.4895G>C (p.Ser1632Thr) c.5051G>C (p.Ser1684Thr) c.5258G>C (p.Ser1753Thr) c.4559G>C (p.Ser1520Thr) c.5306G>C (p.Ser1769Thr) | dbSNP |
16 | g.3729735C>T | CA394557226 | CREBBP | c.5312G>A (p.Ser1771Asn) c.5198G>A (p.Ser1733Asn) c.5267G>A (p.Ser1756Asn) c.4895G>A (p.Ser1632Asn) c.5051G>A (p.Ser1684Asn) c.5258G>A (p.Ser1753Asn) c.4559G>A (p.Ser1520Asn) c.5306G>A (p.Ser1769Asn) | dbSNP gnomAD v4 |
16 | g.3729736T>A | CA394557229 | CREBBP | c.5311A>T (p.Ser1771Cys) c.5197A>T (p.Ser1733Cys) c.5266A>T (p.Ser1756Cys) c.4894A>T (p.Ser1632Cys) c.5050A>T (p.Ser1684Cys) c.5257A>T (p.Ser1753Cys) c.4558A>T (p.Ser1520Cys) c.5305A>T (p.Ser1769Cys) | dbSNP |
16 | g.3729736T>C | CA394557231 | CREBBP | c.5311A>G (p.Ser1771Gly) c.5197A>G (p.Ser1733Gly) c.5266A>G (p.Ser1756Gly) c.4894A>G (p.Ser1632Gly) c.5050A>G (p.Ser1684Gly) c.5257A>G (p.Ser1753Gly) c.4558A>G (p.Ser1520Gly) c.5305A>G (p.Ser1769Gly) | dbSNP |
16 | g.3729736T>G | CA394557233 | CREBBP | c.5311A>C (p.Ser1771Arg) c.5197A>C (p.Ser1733Arg) c.5266A>C (p.Ser1756Arg) c.4894A>C (p.Ser1632Arg) c.5050A>C (p.Ser1684Arg) c.5257A>C (p.Ser1753Arg) c.4558A>C (p.Ser1520Arg) c.5305A>C (p.Ser1769Arg) | dbSNP |
16 | g.3729737C>A | CA493394223 | CREBBP | c.5310G>T (p.Leu1770=) c.5196G>T (p.Leu1732=) c.5265G>T (p.Leu1755=) c.4893G>T (p.Leu1631=) c.5049G>T (p.Leu1683=) c.5256G>T (p.Leu1752=) c.4557G>T (p.Leu1519=) c.5304G>T (p.Leu1768=) | dbSNP gnomAD v4 |
16 | g.3729737C= | CA2202916511 | CREBBP | c.5310G= (p.Leu1770=) c.5196G= (p.Leu1732=) c.5265G= (p.Leu1755=) c.4893G= (p.Leu1631=) c.5049G= (p.Leu1683=) c.5256G= (p.Leu1752=) c.4557G= (p.Leu1519=) c.5304G= (p.Leu1768=) | |
16 | g.3729737C>G | CA493394225 | CREBBP | c.5310G>C (p.Leu1770=) c.5196G>C (p.Leu1732=) c.5265G>C (p.Leu1755=) c.4893G>C (p.Leu1631=) c.5049G>C (p.Leu1683=) c.5256G>C (p.Leu1752=) c.4557G>C (p.Leu1519=) c.5304G>C (p.Leu1768=) | dbSNP |
16 | g.3729737C>T | CA493394224 | CREBBP | c.5310G>A (p.Leu1770=) c.5196G>A (p.Leu1732=) c.5265G>A (p.Leu1755=) c.4893G>A (p.Leu1631=) c.5049G>A (p.Leu1683=) c.5256G>A (p.Leu1752=) c.4557G>A (p.Leu1519=) c.5304G>A (p.Leu1768=) | dbSNP |
16 | g.3729738A>C | CA394557235 | CREBBP | c.5309T>G (p.Leu1770Arg) c.5195T>G (p.Leu1732Arg) c.5264T>G (p.Leu1755Arg) c.4892T>G (p.Leu1631Arg) c.5048T>G (p.Leu1683Arg) c.5255T>G (p.Leu1752Arg) c.4556T>G (p.Leu1519Arg) c.5303T>G (p.Leu1768Arg) | dbSNP |
16 | g.3729738A>G | CA394557237 | CREBBP | c.5309T>C (p.Leu1770Pro) c.5195T>C (p.Leu1732Pro) c.5264T>C (p.Leu1755Pro) c.4892T>C (p.Leu1631Pro) c.5048T>C (p.Leu1683Pro) c.5255T>C (p.Leu1752Pro) c.4556T>C (p.Leu1519Pro) c.5303T>C (p.Leu1768Pro) | dbSNP |
16 | g.3729738A>T | CA394557238 | CREBBP | c.5309T>A (p.Leu1770Gln) c.5195T>A (p.Leu1732Gln) c.5264T>A (p.Leu1755Gln) c.4892T>A (p.Leu1631Gln) c.5048T>A (p.Leu1683Gln) c.5255T>A (p.Leu1752Gln) c.4556T>A (p.Leu1519Gln) c.5303T>A (p.Leu1768Gln) | dbSNP |
16 | g.3729739G>A | CA493394226 | CREBBP | c.5308C>T (p.Leu1770=) c.5194C>T (p.Leu1732=) c.5263C>T (p.Leu1755=) c.4891C>T (p.Leu1631=) c.5047C>T (p.Leu1683=) c.5254C>T (p.Leu1752=) c.4555C>T (p.Leu1519=) c.5302C>T (p.Leu1768=) | dbSNP |
16 | g.3729739G>C | CA394557242 | CREBBP | c.5308C>G (p.Leu1770Val) c.5194C>G (p.Leu1732Val) c.5263C>G (p.Leu1755Val) c.4891C>G (p.Leu1631Val) c.5047C>G (p.Leu1683Val) c.5254C>G (p.Leu1752Val) c.4555C>G (p.Leu1519Val) c.5302C>G (p.Leu1768Val) | dbSNP |
16 | g.3729739G>T | CA394557241 | CREBBP | c.5308C>A (p.Leu1770Met) c.5194C>A (p.Leu1732Met) c.5263C>A (p.Leu1755Met) c.4891C>A (p.Leu1631Met) c.5047C>A (p.Leu1683Met) c.5254C>A (p.Leu1752Met) c.4555C>A (p.Leu1519Met) c.5302C>A (p.Leu1768Met) | |
16 | g.3729740C>A | CA493394227 | CREBBP | c.5307G>T (p.Arg1769=) c.5193G>T (p.Arg1731=) c.5262G>T (p.Arg1754=) c.4890G>T (p.Arg1630=) c.5046G>T (p.Arg1682=) c.5253G>T (p.Arg1751=) c.4554G>T (p.Arg1518=) c.5301G>T (p.Arg1767=) | dbSNP gnomAD v4 |
16 | g.3729740C>G | CA493394229 | CREBBP | c.5307G>C (p.Arg1769=) c.5193G>C (p.Arg1731=) c.5262G>C (p.Arg1754=) c.4890G>C (p.Arg1630=) c.5046G>C (p.Arg1682=) c.5253G>C (p.Arg1751=) c.4554G>C (p.Arg1518=) c.5301G>C (p.Arg1767=) | dbSNP |
16 | g.3729740C>T | CA493394228 | CREBBP | c.5307G>A (p.Arg1769=) c.5193G>A (p.Arg1731=) c.5262G>A (p.Arg1754=) c.4890G>A (p.Arg1630=) c.5046G>A (p.Arg1682=) c.5253G>A (p.Arg1751=) c.4554G>A (p.Arg1518=) c.5301G>A (p.Arg1767=) | dbSNP gnomAD v4 |
16 | g.3729741C>A | CA394557244 | CREBBP | c.5306G>T (p.Arg1769Leu) c.5192G>T (p.Arg1731Leu) c.5261G>T (p.Arg1754Leu) c.4889G>T (p.Arg1630Leu) c.5045G>T (p.Arg1682Leu) c.5252G>T (p.Arg1751Leu) c.4553G>T (p.Arg1518Leu) c.5300G>T (p.Arg1767Leu) | dbSNP |
16 | g.3729741C>G | CA394557246 | CREBBP | c.5306G>C (p.Arg1769Pro) c.5192G>C (p.Arg1731Pro) c.5261G>C (p.Arg1754Pro) c.4889G>C (p.Arg1630Pro) c.5045G>C (p.Arg1682Pro) c.5252G>C (p.Arg1751Pro) c.4553G>C (p.Arg1518Pro) c.5300G>C (p.Arg1767Pro) | dbSNP |
16 | g.3729741C>T | CA394557248 | CREBBP | c.5306G>A (p.Arg1769Gln) c.5192G>A (p.Arg1731Gln) c.5261G>A (p.Arg1754Gln) c.4889G>A (p.Arg1630Gln) c.5045G>A (p.Arg1682Gln) c.5252G>A (p.Arg1751Gln) c.4553G>A (p.Arg1518Gln) c.5300G>A (p.Arg1767Gln) | dbSNP gnomAD v4 |
16 | g.3729742G>A | CA394557250 | CREBBP | c.5305C>T (p.Arg1769Trp) c.5191C>T (p.Arg1731Trp) c.5260C>T (p.Arg1754Trp) c.4888C>T (p.Arg1630Trp) c.5044C>T (p.Arg1682Trp) c.5251C>T (p.Arg1751Trp) c.4552C>T (p.Arg1518Trp) c.5299C>T (p.Arg1767Trp) | dbSNP gnomAD v4 |
16 | g.3729742G>C | CA394557252 | CREBBP | c.5305C>G (p.Arg1769Gly) c.5191C>G (p.Arg1731Gly) c.5260C>G (p.Arg1754Gly) c.4888C>G (p.Arg1630Gly) c.5044C>G (p.Arg1682Gly) c.5251C>G (p.Arg1751Gly) c.4552C>G (p.Arg1518Gly) c.5299C>G (p.Arg1767Gly) | dbSNP |
16 | g.3729742G>T | CA493394230 | CREBBP | c.5305C>A (p.Arg1769=) c.5191C>A (p.Arg1731=) c.5260C>A (p.Arg1754=) c.4888C>A (p.Arg1630=) c.5044C>A (p.Arg1682=) c.5251C>A (p.Arg1751=) c.4552C>A (p.Arg1518=) c.5299C>A (p.Arg1767=) | |
16 | g.3729743G>A | CA493394231 | CREBBP | c.5304C>T (p.Arg1768=) c.5190C>T (p.Arg1730=) c.5259C>T (p.Arg1753=) c.4887C>T (p.Arg1629=) c.5043C>T (p.Arg1681=) c.5250C>T (p.Arg1750=) c.4551C>T (p.Arg1517=) c.5298C>T (p.Arg1766=) | dbSNP |
16 | g.3729743G>C | CA7869295 | CREBBP | c.5304C>G (p.Arg1768=) c.5190C>G (p.Arg1730=) c.5259C>G (p.Arg1753=) c.4887C>G (p.Arg1629=) c.5043C>G (p.Arg1681=) c.5250C>G (p.Arg1750=) c.4551C>G (p.Arg1517=) c.5298C>G (p.Arg1766=) | dbSNP ExAC gnomAD v2 |
16 | g.3729743G= | CA2202916512 | CREBBP | c.5304C= (p.Arg1768=) c.5190C= (p.Arg1730=) c.5259C= (p.Arg1753=) c.4887C= (p.Arg1629=) c.5043C= (p.Arg1681=) c.5250C= (p.Arg1750=) c.4551C= (p.Arg1517=) c.5298C= (p.Arg1766=) | |
16 | g.3729743G>T | CA493394232 | CREBBP | c.5304C>A (p.Arg1768=) c.5190C>A (p.Arg1730=) c.5259C>A (p.Arg1753=) c.4887C>A (p.Arg1629=) c.5043C>A (p.Arg1681=) c.5250C>A (p.Arg1750=) c.4551C>A (p.Arg1517=) c.5298C>A (p.Arg1766=) | gnomAD v4 |
16 | g.3729744C>A | CA394557255 | CREBBP | c.5303G>T (p.Arg1768Leu) c.5189G>T (p.Arg1730Leu) c.5258G>T (p.Arg1753Leu) c.4886G>T (p.Arg1629Leu) c.5042G>T (p.Arg1681Leu) c.5249G>T (p.Arg1750Leu) c.4550G>T (p.Arg1517Leu) c.5297G>T (p.Arg1766Leu) | dbSNP |
16 | g.3729744C>G | CA394557259 | CREBBP | c.5303G>C (p.Arg1768Pro) c.5189G>C (p.Arg1730Pro) c.5258G>C (p.Arg1753Pro) c.4886G>C (p.Arg1629Pro) c.5042G>C (p.Arg1681Pro) c.5249G>C (p.Arg1750Pro) c.4550G>C (p.Arg1517Pro) c.5297G>C (p.Arg1766Pro) | dbSNP |
16 | g.3729744C>T | CA394557257 | CREBBP | c.5303G>A (p.Arg1768His) c.5189G>A (p.Arg1730His) c.5258G>A (p.Arg1753His) c.4886G>A (p.Arg1629His) c.5042G>A (p.Arg1681His) c.5249G>A (p.Arg1750His) c.4550G>A (p.Arg1517His) c.5297G>A (p.Arg1766His) | ClinVar dbSNP gnomAD v4 |
16 | g.3729745G>A | CA394557261 | CREBBP | c.5302C>T (p.Arg1768Cys) c.5188C>T (p.Arg1730Cys) c.5257C>T (p.Arg1753Cys) c.4885C>T (p.Arg1629Cys) c.5041C>T (p.Arg1681Cys) c.5248C>T (p.Arg1750Cys) c.4549C>T (p.Arg1517Cys) c.5296C>T (p.Arg1766Cys) | dbSNP |
16 | g.3729745G>C | CA394557263 | CREBBP | c.5302C>G (p.Arg1768Gly) c.5188C>G (p.Arg1730Gly) c.5257C>G (p.Arg1753Gly) c.4885C>G (p.Arg1629Gly) c.5041C>G (p.Arg1681Gly) c.5248C>G (p.Arg1750Gly) c.4549C>G (p.Arg1517Gly) c.5296C>G (p.Arg1766Gly) | dbSNP |
16 | g.3729745G>T | CA394557265 | CREBBP | c.5302C>A (p.Arg1768Ser) c.5188C>A (p.Arg1730Ser) c.5257C>A (p.Arg1753Ser) c.4885C>A (p.Arg1629Ser) c.5041C>A (p.Arg1681Ser) c.5248C>A (p.Arg1750Ser) c.4549C>A (p.Arg1517Ser) c.5296C>A (p.Arg1766Ser) | gnomAD v4 |
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) |