| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3778028_3778049delinsTGTGCCTGTGGAATCACAGGGG | CA2202958654 | CREBBP | c.2075_2096delinsCCCCTGTGATTCCACAGGCACA (p.Pro692=) c.1961_1982delinsCCCCTGTGATTCCACAGGCACA (p.Pro654=) c.680_701delinsCCCCTGTGATTCCACAGGCACA (p.Pro227=) c.124_145delinsCCCCTGTGATTCCACAGGCACA c.388_409delinsCCCCTGTGATTCCACAGGCACA n.237_258delinsCCCCTGTGATTCCACAGGCACA c.2021_2042delinsCCCCTGTGATTCCACAGGCACA (p.Pro674=) c.1322_1343delinsCCCCTGTGATTCCACAGGCACA (p.Pro441=) | |
| 16 | g.3778030_3778050del | CA919643320 | CREBBP | c.2075_2095del (p.Pro692_Ala698del) c.1961_1981del (p.Pro654_Ala660del) c.680_700del (p.Pro227_Ala233del) c.124_144del c.388_408del n.237_257del c.2021_2041del (p.Pro674_Ala680del) c.1322_1342del (p.Pro441_Ala447del) | dbSNP gnomAD v4 |
| 16 | g.3778040del | CA2580613412 | CREBBP | c.2085del (p.Pro696HisfsTer6) c.1971del (p.Pro658HisfsTer6) c.690del (p.Pro231HisfsTer6) c.134del c.398del n.247del c.2031del (p.Pro678HisfsTer6) c.1332del (p.Pro445HisfsTer6) | ClinVar |
| 16 | g.3778040A>C | CA394554346 | CREBBP | c.2084T>G (p.Ile695Ser) c.1970T>G (p.Ile657Ser) c.689T>G (p.Ile230Ser) c.133T>G c.397T>G n.246T>G c.2030T>G (p.Ile677Ser) c.1331T>G (p.Ile444Ser) | |
| 16 | g.3778040A>G | CA394554348 | CREBBP | c.2084T>C (p.Ile695Thr) c.1970T>C (p.Ile657Thr) c.689T>C (p.Ile230Thr) c.133T>C c.397T>C n.246T>C c.2030T>C (p.Ile677Thr) c.1331T>C (p.Ile444Thr) | |
| 16 | g.3778040A>T | CA394554349 | CREBBP | c.2084T>A (p.Ile695Asn) c.1970T>A (p.Ile657Asn) c.689T>A (p.Ile230Asn) c.133T>A c.397T>A n.246T>A c.2030T>A (p.Ile677Asn) c.1331T>A (p.Ile444Asn) | dbSNP |
| 16 | g.3778041T>A | CA394554350 | CREBBP | c.2083A>T (p.Ile695Phe) c.1969A>T (p.Ile657Phe) c.688A>T (p.Ile230Phe) c.132A>T c.396A>T n.245A>T c.2029A>T (p.Ile677Phe) c.1330A>T (p.Ile444Phe) | dbSNP |
| 16 | g.3778041T>C | CA394554351 | CREBBP | c.2083A>G (p.Ile695Val) c.1969A>G (p.Ile657Val) c.688A>G (p.Ile230Val) c.132A>G c.396A>G n.245A>G c.2029A>G (p.Ile677Val) c.1330A>G (p.Ile444Val) | gnomAD v4 |
| 16 | g.3778041T>G | CA394554353 | CREBBP | c.2083A>C (p.Ile695Leu) c.1969A>C (p.Ile657Leu) c.688A>C (p.Ile230Leu) c.132A>C c.396A>C n.245A>C c.2029A>C (p.Ile677Leu) c.1330A>C (p.Ile444Leu) | dbSNP |
| 16 | g.3778042C>A | CA493276261 | CREBBP | c.2082G>T (p.Val694=) c.1968G>T (p.Val656=) c.687G>T (p.Val229=) c.131G>T c.395G>T n.244G>T c.2028G>T (p.Val676=) c.1329G>T (p.Val443=) | |
| 16 | g.3778042C>G | CA493276262 | CREBBP | c.2082G>C (p.Val694=) c.1968G>C (p.Val656=) c.687G>C (p.Val229=) c.131G>C c.395G>C n.244G>C c.2028G>C (p.Val676=) c.1329G>C (p.Val443=) | dbSNP |
| 16 | g.3778042C>T | CA493276263 | CREBBP | c.2082G>A (p.Val694=) c.1968G>A (p.Val656=) c.687G>A (p.Val229=) c.131G>A c.395G>A n.244G>A c.2028G>A (p.Val676=) c.1329G>A (p.Val443=) | dbSNP |
| 16 | g.3778043A>C | CA394554355 | CREBBP | c.2081T>G (p.Val694Gly) c.1967T>G (p.Val656Gly) c.686T>G (p.Val229Gly) c.130T>G c.394T>G n.243T>G c.2027T>G (p.Val676Gly) c.1328T>G (p.Val443Gly) | dbSNP |
| 16 | g.3778043A>G | CA394554357 | CREBBP | c.2081T>C (p.Val694Ala) c.1967T>C (p.Val656Ala) c.686T>C (p.Val229Ala) c.130T>C c.394T>C n.243T>C c.2027T>C (p.Val676Ala) c.1328T>C (p.Val443Ala) | dbSNP gnomAD v4 |
| 16 | g.3778043A>T | CA394554359 | CREBBP | c.2081T>A (p.Val694Glu) c.1967T>A (p.Val656Glu) c.686T>A (p.Val229Glu) c.130T>A c.394T>A n.243T>A c.2027T>A (p.Val676Glu) c.1328T>A (p.Val443Glu) | dbSNP |
| 16 | g.3778044C>A | CA394554365 | CREBBP | c.2080G>T (p.Val694Leu) c.1966G>T (p.Val656Leu) c.685G>T (p.Val229Leu) c.129G>T c.393G>T n.242G>T c.2026G>T (p.Val676Leu) c.1327G>T (p.Val443Leu) | dbSNP |
| 16 | g.3778044C= | CA2202958683 | CREBBP | c.2080G= (p.Val694=) c.1966G= (p.Val656=) c.685G= (p.Val229=) c.129G= c.393G= n.242G= c.2026G= (p.Val676=) c.1327G= (p.Val443=) | |
| 16 | g.3778044C>G | CA394554361 | CREBBP | c.2080G>C (p.Val694Leu) c.1966G>C (p.Val656Leu) c.685G>C (p.Val229Leu) c.129G>C c.393G>C n.242G>C c.2026G>C (p.Val676Leu) c.1327G>C (p.Val443Leu) | gnomAD v4 COSMIC |
| 16 | g.3778044C>T | CA394554363 | CREBBP | c.2080G>A (p.Val694Met) c.1966G>A (p.Val656Met) c.685G>A (p.Val229Met) c.129G>A c.393G>A n.242G>A c.2026G>A (p.Val676Met) c.1327G>A (p.Val443Met) | |
| 16 | g.3778045A>C | CA493276264 | CREBBP | c.2079T>G (p.Pro693=) c.1965T>G (p.Pro655=) c.684T>G (p.Pro228=) c.128T>G c.392T>G n.241T>G c.2025T>G (p.Pro675=) c.1326T>G (p.Pro442=) | |
| 16 | g.3778045A>G | CA493276265 | CREBBP | c.2079T>C (p.Pro693=) c.1965T>C (p.Pro655=) c.684T>C (p.Pro228=) c.128T>C c.392T>C n.241T>C c.2025T>C (p.Pro675=) c.1326T>C (p.Pro442=) | |
| 16 | g.3778045A>T | CA493276266 | CREBBP | c.2079T>A (p.Pro693=) c.1965T>A (p.Pro655=) c.684T>A (p.Pro228=) c.128T>A c.392T>A n.241T>A c.2025T>A (p.Pro675=) c.1326T>A (p.Pro442=) | |
| 16 | g.3778046G>A | CA394554368 | CREBBP | c.2078C>T (p.Pro693Leu) c.1964C>T (p.Pro655Leu) c.683C>T (p.Pro228Leu) c.127C>T c.391C>T n.240C>T c.2024C>T (p.Pro675Leu) c.1325C>T (p.Pro442Leu) | gnomAD v4 |
| 16 | g.3778046G>C | CA394554370 | CREBBP | c.2078C>G (p.Pro693Arg) c.1964C>G (p.Pro655Arg) c.683C>G (p.Pro228Arg) c.127C>G c.391C>G n.240C>G c.2024C>G (p.Pro675Arg) c.1325C>G (p.Pro442Arg) | |
| 16 | g.3778046G>T | CA394554371 | CREBBP | c.2078C>A (p.Pro693His) c.1964C>A (p.Pro655His) c.683C>A (p.Pro228His) c.127C>A c.391C>A n.240C>A c.2024C>A (p.Pro675His) c.1325C>A (p.Pro442His) | |
| 16 | g.3778050dup | CA2573129716 | CREBBP | c.2078dup (p.Val694CysfsTer?) c.1964dup (p.Val656CysfsTer?) c.683dup (p.Val229CysfsTer?) c.127dup c.391dup n.240dup c.2078dup (p.Val694CysfsTer17) c.2024dup (p.Val676CysfsTer?) c.1325dup (p.Val443CysfsTer?) | |
| 16 | g.3778047G>A | CA7870279 | CREBBP | c.2077C>T (p.Pro693Ser) c.1963C>T (p.Pro655Ser) c.682C>T (p.Pro228Ser) c.126C>T c.390C>T n.239C>T c.2023C>T (p.Pro675Ser) c.1324C>T (p.Pro442Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3778047G>C | CA394554375 | CREBBP | c.2077C>G (p.Pro693Ala) c.1963C>G (p.Pro655Ala) c.682C>G (p.Pro228Ala) c.126C>G c.390C>G n.239C>G c.2023C>G (p.Pro675Ala) c.1324C>G (p.Pro442Ala) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3778047G= | CA2202958686 | CREBBP | c.2077C= (p.Pro693=) c.1963C= (p.Pro655=) c.682C= (p.Pro228=) c.126C= c.390C= n.239C= c.2023C= (p.Pro675=) c.1324C= (p.Pro442=) | |
| 16 | g.3778047G>T | CA394554377 | CREBBP | c.2077C>A (p.Pro693Thr) c.1963C>A (p.Pro655Thr) c.682C>A (p.Pro228Thr) c.126C>A c.390C>A n.239C>A c.2023C>A (p.Pro675Thr) c.1324C>A (p.Pro442Thr) | dbSNP gnomAD v4 |
| 16 | g.3778054_3778067del | CA2695222765 | CREBBP | c.2064_2077del (p.Gly689CysfsTer?) c.1950_1963del (p.Gly651CysfsTer?) c.669_682del (p.Gly224CysfsTer?) c.113_126del c.377_390del n.226_239del c.2064_2077del (p.Gly689CysfsTer17) c.2010_2023del (p.Gly671CysfsTer?) c.1311_1324del (p.Gly438CysfsTer?) | |
| 16 | g.3778048G>A | CA7870280 | CREBBP | c.2076C>T (p.Pro692=) c.1962C>T (p.Pro654=) c.681C>T (p.Pro227=) c.125C>T c.389C>T n.238C>T c.2022C>T (p.Pro674=) c.1323C>T (p.Pro441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778048G>C | CA493276268 | CREBBP | c.2076C>G (p.Pro692=) c.1962C>G (p.Pro654=) c.681C>G (p.Pro227=) c.125C>G c.389C>G n.238C>G c.2022C>G (p.Pro674=) c.1323C>G (p.Pro441=) | |
| 16 | g.3778048G= | CA2202958690 | CREBBP | c.2076C= (p.Pro692=) c.1962C= (p.Pro654=) c.681C= (p.Pro227=) c.125C= c.389C= n.238C= c.2022C= (p.Pro674=) c.1323C= (p.Pro441=) | |
| 16 | g.3778048G>T | CA493276267 | CREBBP | c.2076C>A (p.Pro692=) c.1962C>A (p.Pro654=) c.681C>A (p.Pro227=) c.125C>A c.389C>A n.238C>A c.2022C>A (p.Pro674=) c.1323C>A (p.Pro441=) | gnomAD v4 |
| 16 | g.3778049G>A | CA394554381 | CREBBP | c.2075C>T (p.Pro692Leu) c.1961C>T (p.Pro654Leu) c.680C>T (p.Pro227Leu) c.124C>T c.388C>T n.237C>T c.2021C>T (p.Pro674Leu) c.1322C>T (p.Pro441Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778049G>C | CA394554383 | CREBBP | c.2075C>G (p.Pro692Arg) c.1961C>G (p.Pro654Arg) c.680C>G (p.Pro227Arg) c.124C>G c.388C>G n.237C>G c.2021C>G (p.Pro674Arg) c.1322C>G (p.Pro441Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778049G= | CA2202958693 | CREBBP | c.2075C= (p.Pro692=) c.1961C= (p.Pro654=) c.680C= (p.Pro227=) c.124C= c.388C= n.237C= c.2021C= (p.Pro674=) c.1322C= (p.Pro441=) | |
| 16 | g.3778049G>T | CA394554385 | CREBBP | c.2075C>A (p.Pro692His) c.1961C>A (p.Pro654His) c.680C>A (p.Pro227His) c.124C>A c.388C>A n.237C>A c.2021C>A (p.Pro674His) c.1322C>A (p.Pro441His) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778050G>A | CA394554387 | CREBBP | c.2074C>T (p.Pro692Ser) c.1960C>T (p.Pro654Ser) c.679C>T (p.Pro227Ser) c.123C>T c.387C>T n.236C>T c.2020C>T (p.Pro674Ser) c.1321C>T (p.Pro441Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778050G>C | CA394554389 | CREBBP | c.2074C>G (p.Pro692Ala) c.1960C>G (p.Pro654Ala) c.679C>G (p.Pro227Ala) c.123C>G c.387C>G n.236C>G c.2020C>G (p.Pro674Ala) c.1321C>G (p.Pro441Ala) | dbSNP |
| 16 | g.3778050G= | CA2202958697 | CREBBP | c.2074C= (p.Pro692=) c.1960C= (p.Pro654=) c.679C= (p.Pro227=) c.123C= c.387C= n.236C= c.2020C= (p.Pro674=) c.1321C= (p.Pro441=) | |
| 16 | g.3778050G>T | CA394554390 | CREBBP | c.2074C>A (p.Pro692Thr) c.1960C>A (p.Pro654Thr) c.679C>A (p.Pro227Thr) c.123C>A c.387C>A n.236C>A c.2020C>A (p.Pro674Thr) c.1321C>A (p.Pro441Thr) | |
| 16 | g.3778051C>A | CA394554395 | CREBBP | c.2073G>T (p.Gln691His) c.1959G>T (p.Gln653His) c.678G>T (p.Gln226His) c.122G>T c.386G>T n.235G>T c.2019G>T (p.Gln673His) c.1320G>T (p.Gln440His) | dbSNP |
| 16 | g.3778051C>G | CA394554394 | CREBBP | c.2073G>C (p.Gln691His) c.1959G>C (p.Gln653His) c.678G>C (p.Gln226His) c.122G>C c.386G>C n.235G>C c.2019G>C (p.Gln673His) c.1320G>C (p.Gln440His) | dbSNP |
| 16 | g.3778051C>T | CA493276269 | CREBBP | c.2073G>A (p.Gln691=) c.1959G>A (p.Gln653=) c.678G>A (p.Gln226=) c.122G>A c.386G>A n.235G>A c.2019G>A (p.Gln673=) c.1320G>A (p.Gln440=) | dbSNP gnomAD v4 |
| 16 | g.3778052T>A | CA394554398 | CREBBP | c.2072A>T (p.Gln691Leu) c.1958A>T (p.Gln653Leu) c.677A>T (p.Gln226Leu) c.121A>T c.385A>T n.234A>T c.2018A>T (p.Gln673Leu) c.1319A>T (p.Gln440Leu) | dbSNP gnomAD v4 |
| 16 | g.3778052T>C | CA394554401 | CREBBP | c.2072A>G (p.Gln691Arg) c.1958A>G (p.Gln653Arg) c.677A>G (p.Gln226Arg) c.121A>G c.385A>G n.234A>G c.2018A>G (p.Gln673Arg) c.1319A>G (p.Gln440Arg) | dbSNP |
| 16 | g.3778052T>G | CA394554400 | CREBBP | c.2072A>C (p.Gln691Pro) c.1958A>C (p.Gln653Pro) c.677A>C (p.Gln226Pro) c.121A>C c.385A>C n.234A>C c.2018A>C (p.Gln673Pro) c.1319A>C (p.Gln440Pro) | |
| 16 | g.3778053G>A | CA394554404 | CREBBP | c.2071C>T (p.Gln691Ter) c.1957C>T (p.Gln653Ter) c.676C>T (p.Gln226Ter) c.120C>T c.384C>T n.233C>T c.2017C>T (p.Gln673Ter) c.1318C>T (p.Gln440Ter) | ClinVar dbSNP |
| 16 | g.3778053G>C | CA394554408 | CREBBP | c.2071C>G (p.Gln691Glu) c.1957C>G (p.Gln653Glu) c.676C>G (p.Gln226Glu) c.120C>G c.384C>G n.233C>G c.2017C>G (p.Gln673Glu) c.1318C>G (p.Gln440Glu) | dbSNP |
| 16 | g.3778053G= | CA2202958705 | CREBBP | c.2071C= (p.Gln691=) c.1957C= (p.Gln653=) c.676C= (p.Gln226=) c.120C= c.384C= n.233C= c.2017C= (p.Gln673=) c.1318C= (p.Gln440=) | |
| 16 | g.3778053G>T | CA394554406 | CREBBP | c.2071C>A (p.Gln691Lys) c.1957C>A (p.Gln653Lys) c.676C>A (p.Gln226Lys) c.120C>A c.384C>A n.233C>A c.2017C>A (p.Gln673Lys) c.1318C>A (p.Gln440Lys) | |
| 16 | g.3778054A= | CA2202958710 | CREBBP | c.2070T= (p.Ala690=) c.1956T= (p.Ala652=) c.675T= (p.Ala225=) c.119T= c.383T= n.232T= c.2016T= (p.Ala672=) c.1317T= (p.Ala439=) | |
| 16 | g.3778054A>C | CA493276270 | CREBBP | c.2070T>G (p.Ala690=) c.1956T>G (p.Ala652=) c.675T>G (p.Ala225=) c.119T>G c.383T>G n.232T>G c.2016T>G (p.Ala672=) c.1317T>G (p.Ala439=) | |
| 16 | g.3778054A>G | CA493276271 | CREBBP | c.2070T>C (p.Ala690=) c.1956T>C (p.Ala652=) c.675T>C (p.Ala225=) c.119T>C c.383T>C n.232T>C c.2016T>C (p.Ala672=) c.1317T>C (p.Ala439=) | dbSNP |
| 16 | g.3778054A>T | CA493276272 | CREBBP | c.2070T>A (p.Ala690=) c.1956T>A (p.Ala652=) c.675T>A (p.Ala225=) c.119T>A c.383T>A n.232T>A c.2016T>A (p.Ala672=) c.1317T>A (p.Ala439=) | dbSNP |
| 16 | g.3778055G>A | CA394554410 | CREBBP | c.2069C>T (p.Ala690Val) c.1955C>T (p.Ala652Val) c.674C>T (p.Ala225Val) c.118C>T c.382C>T n.231C>T c.2015C>T (p.Ala672Val) c.1316C>T (p.Ala439Val) | |
| 16 | g.3778055G>C | CA394554411 | CREBBP | c.2069C>G (p.Ala690Gly) c.1955C>G (p.Ala652Gly) c.674C>G (p.Ala225Gly) c.118C>G c.382C>G n.231C>G c.2015C>G (p.Ala672Gly) c.1316C>G (p.Ala439Gly) | |
| 16 | g.3778055G>T | CA394554413 | CREBBP | c.2069C>A (p.Ala690Asp) c.1955C>A (p.Ala652Asp) c.674C>A (p.Ala225Asp) c.118C>A c.382C>A n.231C>A c.2015C>A (p.Ala672Asp) c.1316C>A (p.Ala439Asp) | |
| 16 | g.3778056C>A | CA158209 | CREBBP | c.2068G>T (p.Ala690Ser) c.1954G>T (p.Ala652Ser) c.673G>T (p.Ala225Ser) c.117G>T c.381G>T n.230G>T c.2014G>T (p.Ala672Ser) c.1315G>T (p.Ala439Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778056C= | CA2202958719 | CREBBP | c.2068G= (p.Ala690=) c.1954G= (p.Ala652=) c.673G= (p.Ala225=) c.117G= c.381G= n.230G= c.2014G= (p.Ala672=) c.1315G= (p.Ala439=) | |
| 16 | g.3778056C>G | CA7870281 | CREBBP | c.2068G>C (p.Ala690Pro) c.1954G>C (p.Ala652Pro) c.673G>C (p.Ala225Pro) c.117G>C c.381G>C n.230G>C c.2014G>C (p.Ala672Pro) c.1315G>C (p.Ala439Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3778056C>T | CA394554418 | CREBBP | c.2068G>A (p.Ala690Thr) c.1954G>A (p.Ala652Thr) c.673G>A (p.Ala225Thr) c.117G>A c.381G>A n.230G>A c.2014G>A (p.Ala672Thr) c.1315G>A (p.Ala439Thr) | dbSNP |
| 16 | g.3778060del | CA493276273 | CREBBP | c.2068del (p.Ala690LeufsTer5) c.1954del (p.Ala652LeufsTer5) c.673del (p.Ala225LeufsTer5) c.117del c.381del n.230del c.2014del (p.Ala672LeufsTer5) c.1315del (p.Ala439LeufsTer5) | COSMIC |
| 16 | g.3778057C>A | CA493276274 | CREBBP | c.2067G>T (p.Gly689=) c.1953G>T (p.Gly651=) c.672G>T (p.Gly224=) c.116G>T c.380G>T n.229G>T c.2013G>T (p.Gly671=) c.1314G>T (p.Gly438=) | dbSNP |
| 16 | g.3778057C= | CA2202958722 | CREBBP | c.2067G= (p.Gly689=) c.1953G= (p.Gly651=) c.672G= (p.Gly224=) c.116G= c.380G= n.229G= c.2013G= (p.Gly671=) c.1314G= (p.Gly438=) | |
| 16 | g.3778057C>G | CA493276275 | CREBBP | c.2067G>C (p.Gly689=) c.1953G>C (p.Gly651=) c.672G>C (p.Gly224=) c.116G>C c.380G>C n.229G>C c.2013G>C (p.Gly671=) c.1314G>C (p.Gly438=) | dbSNP |
| 16 | g.3778057C>T | CA7870282 | CREBBP | c.2067G>A (p.Gly689=) c.1953G>A (p.Gly651=) c.672G>A (p.Gly224=) c.116G>A c.380G>A n.229G>A c.2013G>A (p.Gly671=) c.1314G>A (p.Gly438=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778058C>A | CA394554420 | CREBBP | c.2066G>T (p.Gly689Val) c.1952G>T (p.Gly651Val) c.671G>T (p.Gly224Val) c.115G>T c.379G>T n.228G>T c.2012G>T (p.Gly671Val) c.1313G>T (p.Gly438Val) | |
| 16 | g.3778058C>G | CA394554421 | CREBBP | c.2066G>C (p.Gly689Ala) c.1952G>C (p.Gly651Ala) c.671G>C (p.Gly224Ala) c.115G>C c.379G>C n.228G>C c.2012G>C (p.Gly671Ala) c.1313G>C (p.Gly438Ala) | dbSNP |
| 16 | g.3778058C>T | CA394554423 | CREBBP | c.2066G>A (p.Gly689Glu) c.1952G>A (p.Gly651Glu) c.671G>A (p.Gly224Glu) c.115G>A c.379G>A n.228G>A c.2012G>A (p.Gly671Glu) c.1313G>A (p.Gly438Glu) | gnomAD v4 |
| 16 | g.3778059C>A | CA394554428 | CREBBP | c.2065G>T (p.Gly689Trp) c.1951G>T (p.Gly651Trp) c.670G>T (p.Gly224Trp) c.114G>T c.378G>T n.227G>T c.2011G>T (p.Gly671Trp) c.1312G>T (p.Gly438Trp) | |
| 16 | g.3778059C>G | CA394554426 | CREBBP | c.2065G>C (p.Gly689Arg) c.1951G>C (p.Gly651Arg) c.670G>C (p.Gly224Arg) c.114G>C c.378G>C n.227G>C c.2011G>C (p.Gly671Arg) c.1312G>C (p.Gly438Arg) | dbSNP |
| 16 | g.3778059C>T | CA394554425 | CREBBP | c.2065G>A (p.Gly689Arg) c.1951G>A (p.Gly651Arg) c.670G>A (p.Gly224Arg) c.114G>A c.378G>A n.227G>A c.2011G>A (p.Gly671Arg) c.1312G>A (p.Gly438Arg) | dbSNP gnomAD v4 |
| 16 | g.3778060C>A | CA493276276 | CREBBP | c.2064G>T (p.Pro688=) c.1950G>T (p.Pro650=) c.669G>T (p.Pro223=) c.113G>T c.377G>T n.226G>T c.2010G>T (p.Pro670=) c.1311G>T (p.Pro437=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778060C= | CA2202958733 | CREBBP | c.2064G= (p.Pro688=) c.1950G= (p.Pro650=) c.669G= (p.Pro223=) c.113G= c.377G= n.226G= c.2010G= (p.Pro670=) c.1311G= (p.Pro437=) | |
| 16 | g.3778060C>G | CA493276277 | CREBBP | c.2064G>C (p.Pro688=) c.1950G>C (p.Pro650=) c.669G>C (p.Pro223=) c.113G>C c.377G>C n.226G>C c.2010G>C (p.Pro670=) c.1311G>C (p.Pro437=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778060C>T | CA7870283 | CREBBP | c.2064G>A (p.Pro688=) c.1950G>A (p.Pro650=) c.669G>A (p.Pro223=) c.113G>A c.377G>A n.226G>A c.2010G>A (p.Pro670=) c.1311G>A (p.Pro437=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3778061G>A | CA7870284 | CREBBP | c.2063C>T (p.Pro688Leu) c.1949C>T (p.Pro650Leu) c.668C>T (p.Pro223Leu) c.112C>T c.376C>T n.225C>T c.2009C>T (p.Pro670Leu) c.1310C>T (p.Pro437Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778061G>C | CA394554429 | CREBBP | c.2063C>G (p.Pro688Arg) c.1949C>G (p.Pro650Arg) c.668C>G (p.Pro223Arg) c.112C>G c.376C>G n.225C>G c.2009C>G (p.Pro670Arg) c.1310C>G (p.Pro437Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778061G= | CA2202958740 | CREBBP | c.2063C= (p.Pro688=) c.1949C= (p.Pro650=) c.668C= (p.Pro223=) c.112C= c.376C= n.225C= c.2009C= (p.Pro670=) c.1310C= (p.Pro437=) | |
| 16 | g.3778061G>T | CA394554431 | CREBBP | c.2063C>A (p.Pro688Gln) c.1949C>A (p.Pro650Gln) c.668C>A (p.Pro223Gln) c.112C>A c.376C>A n.225C>A c.2009C>A (p.Pro670Gln) c.1310C>A (p.Pro437Gln) | dbSNP gnomAD v4 |
| 16 | g.3778062G>A | CA7870286 | CREBBP | c.2062C>T (p.Pro688Ser) c.1948C>T (p.Pro650Ser) c.667C>T (p.Pro223Ser) c.111C>T c.375C>T n.224C>T c.2008C>T (p.Pro670Ser) c.1309C>T (p.Pro437Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778062G>C | CA7870285 | CREBBP | c.2062C>G (p.Pro688Ala) c.1948C>G (p.Pro650Ala) c.667C>G (p.Pro223Ala) c.111C>G c.375C>G n.224C>G c.2008C>G (p.Pro670Ala) c.1309C>G (p.Pro437Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778062G= | CA2202958745 | CREBBP | c.2062C= (p.Pro688=) c.1948C= (p.Pro650=) c.667C= (p.Pro223=) c.111C= c.375C= n.224C= c.2008C= (p.Pro670=) c.1309C= (p.Pro437=) | |
| 16 | g.3778062G>T | CA394554434 | CREBBP | c.2062C>A (p.Pro688Thr) c.1948C>A (p.Pro650Thr) c.667C>A (p.Pro223Thr) c.111C>A c.375C>A n.224C>A c.2008C>A (p.Pro670Thr) c.1309C>A (p.Pro437Thr) | dbSNP |
| 16 | g.3778063G>A | CA493276279 | CREBBP | c.2061C>T (p.Ala687=) c.1947C>T (p.Ala649=) c.666C>T (p.Ala222=) c.110C>T c.374C>T n.223C>T c.2007C>T (p.Ala669=) c.1308C>T (p.Ala436=) | dbSNP |
| 16 | g.3778063G>C | CA7870287 | CREBBP | c.2061C>G (p.Ala687=) c.1947C>G (p.Ala649=) c.666C>G (p.Ala222=) c.110C>G c.374C>G n.223C>G c.2007C>G (p.Ala669=) c.1308C>G (p.Ala436=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778063G= | CA2202958748 | CREBBP | c.2061C= (p.Ala687=) c.1947C= (p.Ala649=) c.666C= (p.Ala222=) c.110C= c.374C= n.223C= c.2007C= (p.Ala669=) c.1308C= (p.Ala436=) | |
| 16 | g.3778063G>T | CA493276278 | CREBBP | c.2061C>A (p.Ala687=) c.1947C>A (p.Ala649=) c.666C>A (p.Ala222=) c.110C>A c.374C>A n.223C>A c.2007C>A (p.Ala669=) c.1308C>A (p.Ala436=) | gnomAD v4 |
| 16 | g.3778064G>A | CA7870288 | CREBBP | c.2060C>T (p.Ala687Val) c.1946C>T (p.Ala649Val) c.665C>T (p.Ala222Val) c.109C>T c.373C>T n.222C>T c.2006C>T (p.Ala669Val) c.1307C>T (p.Ala436Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778064G>C | CA394554437 | CREBBP | c.2060C>G (p.Ala687Gly) c.1946C>G (p.Ala649Gly) c.665C>G (p.Ala222Gly) c.109C>G c.373C>G n.222C>G c.2006C>G (p.Ala669Gly) c.1307C>G (p.Ala436Gly) | |
| 16 | g.3778064G= | CA2202958749 | CREBBP | c.2060C= (p.Ala687=) c.1946C= (p.Ala649=) c.665C= (p.Ala222=) c.109C= c.373C= n.222C= c.2006C= (p.Ala669=) c.1307C= (p.Ala436=) | |
| 16 | g.3778064G>T | CA394554439 | CREBBP | c.2060C>A (p.Ala687Asp) c.1946C>A (p.Ala649Asp) c.665C>A (p.Ala222Asp) c.109C>A c.373C>A n.222C>A c.2006C>A (p.Ala669Asp) c.1307C>A (p.Ala436Asp) | |
| 16 | g.3778065C>A | CA394554442 | CREBBP | c.2059G>T (p.Ala687Ser) c.1945G>T (p.Ala649Ser) c.664G>T (p.Ala222Ser) c.108G>T c.372G>T n.221G>T c.2005G>T (p.Ala669Ser) c.1306G>T (p.Ala436Ser) | dbSNP |
| 16 | g.3778065C>G | CA394554444 | CREBBP | c.2059G>C (p.Ala687Pro) c.1945G>C (p.Ala649Pro) c.664G>C (p.Ala222Pro) c.108G>C c.372G>C n.221G>C c.2005G>C (p.Ala669Pro) c.1306G>C (p.Ala436Pro) | dbSNP |
| 16 | g.3778065C>T | CA394554441 | CREBBP | c.2059G>A (p.Ala687Thr) c.1945G>A (p.Ala649Thr) c.664G>A (p.Ala222Thr) c.108G>A c.372G>A n.221G>A c.2005G>A (p.Ala669Thr) c.1306G>A (p.Ala436Thr) | dbSNP |
| 16 | g.3778066T>A | CA493276280 | CREBBP | c.2058A>T (p.Pro686=) c.1944A>T (p.Pro648=) c.663A>T (p.Pro221=) c.107A>T c.371A>T n.220A>T c.2004A>T (p.Pro668=) c.1305A>T (p.Pro435=) | gnomAD v4 |
| 16 | g.3778066T>C | CA493276281 | CREBBP | c.2058A>G (p.Pro686=) c.1944A>G (p.Pro648=) c.663A>G (p.Pro221=) c.107A>G c.371A>G n.220A>G c.2004A>G (p.Pro668=) c.1305A>G (p.Pro435=) | |
| 16 | g.3778066T>G | CA493276282 | CREBBP | c.2058A>C (p.Pro686=) c.1944A>C (p.Pro648=) c.663A>C (p.Pro221=) c.107A>C c.371A>C n.220A>C c.2004A>C (p.Pro668=) c.1305A>C (p.Pro435=) | |
| 16 | g.3778067G>A | CA394554447 | CREBBP | c.2057C>T (p.Pro686Leu) c.1943C>T (p.Pro648Leu) c.662C>T (p.Pro221Leu) c.106C>T c.370C>T n.219C>T c.2003C>T (p.Pro668Leu) c.1304C>T (p.Pro435Leu) | dbSNP |
| 16 | g.3778067G>C | CA394554448 | CREBBP | c.2057C>G (p.Pro686Arg) c.1943C>G (p.Pro648Arg) c.662C>G (p.Pro221Arg) c.106C>G c.370C>G n.219C>G c.2003C>G (p.Pro668Arg) c.1304C>G (p.Pro435Arg) | dbSNP |
| 16 | g.3778067G>T | CA394554450 | CREBBP | c.2057C>A (p.Pro686Gln) c.1943C>A (p.Pro648Gln) c.662C>A (p.Pro221Gln) c.106C>A c.370C>A n.219C>A c.2003C>A (p.Pro668Gln) c.1304C>A (p.Pro435Gln) | gnomAD v4 |
| 16 | g.3778068dup | CA2695222766 | CREBBP | c.2057dup (p.Ala687SerfsTer?) c.1943dup (p.Ala649SerfsTer?) c.662dup (p.Ala222SerfsTer?) c.106dup c.370dup n.219dup c.2057dup (p.Ala687SerfsTer24) c.2003dup (p.Ala669SerfsTer?) c.1304dup (p.Ala436SerfsTer?) | |
| 16 | g.3778068G>A | CA7870290 | CREBBP | c.2056C>T (p.Pro686Ser) c.1942C>T (p.Pro648Ser) c.661C>T (p.Pro221Ser) c.105C>T c.369C>T n.218C>T c.2002C>T (p.Pro668Ser) c.1303C>T (p.Pro435Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778068G>C | CA394554454 | CREBBP | c.2056C>G (p.Pro686Ala) c.1942C>G (p.Pro648Ala) c.661C>G (p.Pro221Ala) c.105C>G c.369C>G n.218C>G c.2002C>G (p.Pro668Ala) c.1303C>G (p.Pro435Ala) | dbSNP gnomAD v2 |
| 16 | g.3778068G= | CA2202958750 | CREBBP | c.2056C= (p.Pro686=) c.1942C= (p.Pro648=) c.661C= (p.Pro221=) c.105C= c.369C= n.218C= c.2002C= (p.Pro668=) c.1303C= (p.Pro435=) | |
| 16 | g.3778068G>T | CA7870289 | CREBBP | c.2056C>A (p.Pro686Thr) c.1942C>A (p.Pro648Thr) c.661C>A (p.Pro221Thr) c.105C>A c.369C>A n.218C>A c.2002C>A (p.Pro668Thr) c.1303C>A (p.Pro435Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3778069T>A | CA394554457 | CREBBP | c.2055A>T (p.Leu685Phe) c.1941A>T (p.Leu647Phe) c.660A>T (p.Leu220Phe) c.104A>T c.368A>T n.217A>T c.2001A>T (p.Leu667Phe) c.1302A>T (p.Leu434Phe) | |
| 16 | g.3778069T>C | CA493276283 | CREBBP | c.2055A>G (p.Leu685=) c.1941A>G (p.Leu647=) c.660A>G (p.Leu220=) c.104A>G c.368A>G n.217A>G c.2001A>G (p.Leu667=) c.1302A>G (p.Leu434=) | dbSNP |
| 16 | g.3778069T>G | CA394554459 | CREBBP | c.2055A>C (p.Leu685Phe) c.1941A>C (p.Leu647Phe) c.660A>C (p.Leu220Phe) c.104A>C c.368A>C n.217A>C c.2001A>C (p.Leu667Phe) c.1302A>C (p.Leu434Phe) | dbSNP |
| 16 | g.3778069T= | CA2202958753 | CREBBP | c.2055A= (p.Leu685=) c.1941A= (p.Leu647=) c.660A= (p.Leu220=) c.104A= c.368A= n.217A= c.2001A= (p.Leu667=) c.1302A= (p.Leu434=) | |
| 16 | g.3778070A= | CA2202958758 | CREBBP | c.2054T= (p.Leu685=) c.1940T= (p.Leu647=) c.659T= (p.Leu220=) c.103T= c.367T= n.216T= c.2000T= (p.Leu667=) c.1301T= (p.Leu434=) | |
| 16 | g.3778070A>C | CA394554462 | CREBBP | c.2054T>G (p.Leu685Ter) c.1940T>G (p.Leu647Ter) c.659T>G (p.Leu220Ter) c.103T>G c.367T>G n.216T>G c.2000T>G (p.Leu667Ter) c.1301T>G (p.Leu434Ter) | |
| 16 | g.3778070A>G | CA394554464 | CREBBP | c.2054T>C (p.Leu685Ser) c.1940T>C (p.Leu647Ser) c.659T>C (p.Leu220Ser) c.103T>C c.367T>C n.216T>C c.2000T>C (p.Leu667Ser) c.1301T>C (p.Leu434Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778070A>T | CA394554466 | CREBBP | c.2054T>A (p.Leu685Ter) c.1940T>A (p.Leu647Ter) c.659T>A (p.Leu220Ter) c.103T>A c.367T>A n.216T>A c.2000T>A (p.Leu667Ter) c.1301T>A (p.Leu434Ter) | dbSNP |
| 16 | g.3778070_3778078dup | CA2202958757 | CREBBP | c.2046_2054dup (p.Leu685_Pro686insProAlaLeu) c.1932_1940dup (p.Leu647_Pro648insProAlaLeu) c.651_659dup (p.Leu220_Pro221insProAlaLeu) c.95_103dup c.359_367dup n.208_216dup c.1992_2000dup (p.Leu667_Pro668insProAlaLeu) c.1293_1301dup (p.Leu434_Pro435insProAlaLeu) | dbSNP gnomAD v4 |
| 16 | g.3778071A>C | CA394554468 | CREBBP | c.2053T>G (p.Leu685Val) c.1939T>G (p.Leu647Val) c.658T>G (p.Leu220Val) c.102T>G c.366T>G n.215T>G c.1999T>G (p.Leu667Val) c.1300T>G (p.Leu434Val) | |
| 16 | g.3778071A>G | CA493276284 | CREBBP | c.2053T>C (p.Leu685=) c.1939T>C (p.Leu647=) c.658T>C (p.Leu220=) c.102T>C c.366T>C n.215T>C c.1999T>C (p.Leu667=) c.1300T>C (p.Leu434=) | dbSNP |
| 16 | g.3778071A>T | CA394554470 | CREBBP | c.2053T>A (p.Leu685Ile) c.1939T>A (p.Leu647Ile) c.658T>A (p.Leu220Ile) c.102T>A c.366T>A n.215T>A c.1999T>A (p.Leu667Ile) c.1300T>A (p.Leu434Ile) | dbSNP |
| 16 | g.3778072G>A | CA493276285 | CREBBP | c.2052C>T (p.Ala684=) c.1938C>T (p.Ala646=) c.657C>T (p.Ala219=) c.101C>T c.365C>T n.214C>T c.1998C>T (p.Ala666=) c.1299C>T (p.Ala433=) | dbSNP |
| 16 | g.3778072G>C | CA493276286 | CREBBP | c.2052C>G (p.Ala684=) c.1938C>G (p.Ala646=) c.657C>G (p.Ala219=) c.101C>G c.365C>G n.214C>G c.1998C>G (p.Ala666=) c.1299C>G (p.Ala433=) | dbSNP gnomAD v4 |
| 16 | g.3778072G>T | CA493276287 | CREBBP | c.2052C>A (p.Ala684=) c.1938C>A (p.Ala646=) c.657C>A (p.Ala219=) c.101C>A c.365C>A n.214C>A c.1998C>A (p.Ala666=) c.1299C>A (p.Ala433=) | |
| 16 | g.3778073G>A | CA394554475 | CREBBP | c.2051C>T (p.Ala684Val) c.1937C>T (p.Ala646Val) c.656C>T (p.Ala219Val) c.100C>T c.364C>T n.213C>T c.1997C>T (p.Ala666Val) c.1298C>T (p.Ala433Val) | dbSNP |
| 16 | g.3778073G>C | CA394554473 | CREBBP | c.2051C>G (p.Ala684Gly) c.1937C>G (p.Ala646Gly) c.656C>G (p.Ala219Gly) c.100C>G c.364C>G n.213C>G c.1997C>G (p.Ala666Gly) c.1298C>G (p.Ala433Gly) | dbSNP |
| 16 | g.3778073G>T | CA394554472 | CREBBP | c.2051C>A (p.Ala684Asp) c.1937C>A (p.Ala646Asp) c.656C>A (p.Ala219Asp) c.100C>A c.364C>A n.213C>A c.1997C>A (p.Ala666Asp) c.1298C>A (p.Ala433Asp) | |
| 16 | g.3778074C>A | CA394554478 | CREBBP | c.2050G>T (p.Ala684Ser) c.1936G>T (p.Ala646Ser) c.655G>T (p.Ala219Ser) c.99G>T c.363G>T n.212G>T c.1996G>T (p.Ala666Ser) c.1297G>T (p.Ala433Ser) | ClinVar dbSNP |
| 16 | g.3778074C= | CA2202958760 | CREBBP | c.2050G= (p.Ala684=) c.1936G= (p.Ala646=) c.655G= (p.Ala219=) c.99G= c.363G= n.212G= c.1996G= (p.Ala666=) c.1297G= (p.Ala433=) | |
| 16 | g.3778074C>G | CA394554479 | CREBBP | c.2050G>C (p.Ala684Pro) c.1936G>C (p.Ala646Pro) c.655G>C (p.Ala219Pro) c.99G>C c.363G>C n.212G>C c.1996G>C (p.Ala666Pro) c.1297G>C (p.Ala433Pro) | dbSNP |
| 16 | g.3778074C>T | CA158207 | CREBBP | c.2050G>A (p.Ala684Thr) c.1936G>A (p.Ala646Thr) c.655G>A (p.Ala219Thr) c.99G>A c.363G>A n.212G>A c.1996G>A (p.Ala666Thr) c.1297G>A (p.Ala433Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778075T>A | CA493276288 | CREBBP | c.2049A>T (p.Pro683=) c.1935A>T (p.Pro645=) c.654A>T (p.Pro218=) c.98A>T c.362A>T n.211A>T c.1995A>T (p.Pro665=) c.1296A>T (p.Pro432=) | |
| 16 | g.3778075T>C | CA7870291 | CREBBP | c.2049A>G (p.Pro683=) c.1935A>G (p.Pro645=) c.654A>G (p.Pro218=) c.98A>G c.362A>G n.211A>G c.1995A>G (p.Pro665=) c.1296A>G (p.Pro432=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778075T>G | CA493276289 | CREBBP | c.2049A>C (p.Pro683=) c.1935A>C (p.Pro645=) c.654A>C (p.Pro218=) c.98A>C c.362A>C n.211A>C c.1995A>C (p.Pro665=) c.1296A>C (p.Pro432=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778075T= | CA2202958764 | CREBBP | c.2049A= (p.Pro683=) c.1935A= (p.Pro645=) c.654A= (p.Pro218=) c.98A= c.362A= n.211A= c.1995A= (p.Pro665=) c.1296A= (p.Pro432=) | |
| 16 | g.3778076G>A | CA394554483 | CREBBP | c.2048C>T (p.Pro683Leu) c.1934C>T (p.Pro645Leu) c.653C>T (p.Pro218Leu) c.97C>T c.361C>T n.210C>T c.1994C>T (p.Pro665Leu) c.1295C>T (p.Pro432Leu) | dbSNP gnomAD v4 |
| 16 | g.3778076G>C | CA394554485 | CREBBP | c.2048C>G (p.Pro683Arg) c.1934C>G (p.Pro645Arg) c.653C>G (p.Pro218Arg) c.97C>G c.361C>G n.210C>G c.1994C>G (p.Pro665Arg) c.1295C>G (p.Pro432Arg) | dbSNP |
| 16 | g.3778076G>T | CA394554487 | CREBBP | c.2048C>A (p.Pro683Gln) c.1934C>A (p.Pro645Gln) c.653C>A (p.Pro218Gln) c.97C>A c.361C>A n.210C>A c.1994C>A (p.Pro665Gln) c.1295C>A (p.Pro432Gln) | dbSNP |
| 16 | g.3778077G>A | CA394554489 | CREBBP | c.2047C>T (p.Pro683Ser) c.1933C>T (p.Pro645Ser) c.652C>T (p.Pro218Ser) c.96C>T c.360C>T n.209C>T c.1993C>T (p.Pro665Ser) c.1294C>T (p.Pro432Ser) | dbSNP |
| 16 | g.3778077G>C | CA394554491 | CREBBP | c.2047C>G (p.Pro683Ala) c.1933C>G (p.Pro645Ala) c.652C>G (p.Pro218Ala) c.96C>G c.360C>G n.209C>G c.1993C>G (p.Pro665Ala) c.1294C>G (p.Pro432Ala) | dbSNP |
| 16 | g.3778077G>T | CA394554493 | CREBBP | c.2047C>A (p.Pro683Thr) c.1933C>A (p.Pro645Thr) c.652C>A (p.Pro218Thr) c.96C>A c.360C>A n.209C>A c.1993C>A (p.Pro665Thr) c.1294C>A (p.Pro432Thr) | dbSNP |
| 16 | g.3778078C>A | CA394554494 | CREBBP | c.2046G>T (p.Gln682His) c.1932G>T (p.Gln644His) c.651G>T (p.Gln217His) c.95G>T c.359G>T n.208G>T c.1992G>T (p.Gln664His) c.1293G>T (p.Gln431His) | |
| 16 | g.3778078C>G | CA394554496 | CREBBP | c.2046G>C (p.Gln682His) c.1932G>C (p.Gln644His) c.651G>C (p.Gln217His) c.95G>C c.359G>C n.208G>C c.1992G>C (p.Gln664His) c.1293G>C (p.Gln431His) | dbSNP gnomAD v4 |
| 16 | g.3778078C>T | CA493276290 | CREBBP | c.2046G>A (p.Gln682=) c.1932G>A (p.Gln644=) c.651G>A (p.Gln217=) c.95G>A c.359G>A n.208G>A c.1992G>A (p.Gln664=) c.1293G>A (p.Gln431=) | |
| 16 | g.3778079T>A | CA394554501 | CREBBP | c.2045A>T (p.Gln682Leu) c.1931A>T (p.Gln644Leu) c.650A>T (p.Gln217Leu) c.94A>T c.358A>T n.207A>T c.1991A>T (p.Gln664Leu) c.1292A>T (p.Gln431Leu) | dbSNP |
| 16 | g.3778079T>C | CA394554500 | CREBBP | c.2045A>G (p.Gln682Arg) c.1931A>G (p.Gln644Arg) c.650A>G (p.Gln217Arg) c.94A>G c.358A>G n.207A>G c.1991A>G (p.Gln664Arg) c.1292A>G (p.Gln431Arg) | |
| 16 | g.3778079T>G | CA394554498 | CREBBP | c.2045A>C (p.Gln682Pro) c.1931A>C (p.Gln644Pro) c.650A>C (p.Gln217Pro) c.94A>C c.358A>C n.207A>C c.1991A>C (p.Gln664Pro) c.1292A>C (p.Gln431Pro) | |
| 16 | g.3778079dup | CA2695222675 | CREBBP | c.2045dup (p.Pro683AlafsTer?) c.1931dup (p.Pro645AlafsTer?) c.650dup (p.Pro218AlafsTer?) c.94dup c.358dup n.207dup c.2045dup (p.Pro683AlafsTer28) c.1991dup (p.Pro665AlafsTer?) c.1292dup (p.Pro432AlafsTer?) | |
| 16 | g.3778080G>A | CA394554504 | CREBBP | c.2044C>T (p.Gln682Ter) c.1930C>T (p.Gln644Ter) c.649C>T (p.Gln217Ter) c.93C>T c.357C>T n.206C>T c.1990C>T (p.Gln664Ter) c.1291C>T (p.Gln431Ter) | dbSNP |
| 16 | g.3778080G>C | CA394554507 | CREBBP | c.2044C>G (p.Gln682Glu) c.1930C>G (p.Gln644Glu) c.649C>G (p.Gln217Glu) c.93C>G c.357C>G n.206C>G c.1990C>G (p.Gln664Glu) c.1291C>G (p.Gln431Glu) | dbSNP |
| 16 | g.3778080G>T | CA394554506 | CREBBP | c.2044C>A (p.Gln682Lys) c.1930C>A (p.Gln644Lys) c.649C>A (p.Gln217Lys) c.93C>A c.357C>A n.206C>A c.1990C>A (p.Gln664Lys) c.1291C>A (p.Gln431Lys) | |
| 16 | g.3778081G>A | CA7870292 | CREBBP | c.2043C>T (p.Asn681=) c.1929C>T (p.Asn643=) c.648C>T (p.Asn216=) c.92C>T c.356C>T n.205C>T c.1989C>T (p.Asn663=) c.1290C>T (p.Asn430=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.3778081G>C | CA394554511 | CREBBP | c.2043C>G (p.Asn681Lys) c.1929C>G (p.Asn643Lys) c.648C>G (p.Asn216Lys) c.92C>G c.356C>G n.205C>G c.1989C>G (p.Asn663Lys) c.1290C>G (p.Asn430Lys) | dbSNP |
| 16 | g.3778081G= | CA2202958766 | CREBBP | c.2043C= (p.Asn681=) c.1929C= (p.Asn643=) c.648C= (p.Asn216=) c.92C= c.356C= n.205C= c.1989C= (p.Asn663=) c.1290C= (p.Asn430=) | |
| 16 | g.3778081G>T | CA394554512 | CREBBP | c.2043C>A (p.Asn681Lys) c.1929C>A (p.Asn643Lys) c.648C>A (p.Asn216Lys) c.92C>A c.356C>A n.205C>A c.1989C>A (p.Asn663Lys) c.1290C>A (p.Asn430Lys) | |
| 16 | g.3778082T>A | CA394554513 | CREBBP | c.2042A>T (p.Asn681Ile) c.1928A>T (p.Asn643Ile) c.647A>T (p.Asn216Ile) c.91A>T c.355A>T n.204A>T c.1988A>T (p.Asn663Ile) c.1289A>T (p.Asn430Ile) | dbSNP |
| 16 | g.3778082T>C | CA394554515 | CREBBP | c.2042A>G (p.Asn681Ser) c.1928A>G (p.Asn643Ser) c.647A>G (p.Asn216Ser) c.91A>G c.355A>G n.204A>G c.1988A>G (p.Asn663Ser) c.1289A>G (p.Asn430Ser) | dbSNP |
| 16 | g.3778082T>G | CA7870293 | CREBBP | c.2042A>C (p.Asn681Thr) c.1928A>C (p.Asn643Thr) c.647A>C (p.Asn216Thr) c.91A>C c.355A>C n.204A>C c.1988A>C (p.Asn663Thr) c.1289A>C (p.Asn430Thr) | dbSNP ExAC gnomAD v4 |
| 16 | g.3778082T= | CA2202958768 | CREBBP | c.2042A= (p.Asn681=) c.1928A= (p.Asn643=) c.647A= (p.Asn216=) c.91A= c.355A= n.204A= c.1988A= (p.Asn663=) c.1289A= (p.Asn430=) | |
| 16 | g.3778082_3778083insG | CA2695222676 | CREBBP | c.2041_2042insC (p.Asn681ThrfsTer?) c.1927_1928insC (p.Asn643ThrfsTer?) c.646_647insC (p.Asn216ThrfsTer?) c.90_91insC c.354_355insC n.203_204insC c.2041_2042insC (p.Asn681ThrfsTer30) c.1987_1988insC (p.Asn663ThrfsTer?) c.1288_1289insC (p.Asn430ThrfsTer?) | |
| 16 | g.3778083T>A | CA394554516 | CREBBP | c.2041A>T (p.Asn681Tyr) c.1927A>T (p.Asn643Tyr) c.646A>T (p.Asn216Tyr) c.90A>T c.354A>T n.203A>T c.1987A>T (p.Asn663Tyr) c.1288A>T (p.Asn430Tyr) | |
| 16 | g.3778083T>C | CA394554517 | CREBBP | c.2041A>G (p.Asn681Asp) c.1927A>G (p.Asn643Asp) c.646A>G (p.Asn216Asp) c.90A>G c.354A>G n.203A>G c.1987A>G (p.Asn663Asp) c.1288A>G (p.Asn430Asp) | |
| 16 | g.3778083T>G | CA394554519 | CREBBP | c.2041A>C (p.Asn681His) c.1927A>C (p.Asn643His) c.646A>C (p.Asn216His) c.90A>C c.354A>C n.203A>C c.1987A>C (p.Asn663His) c.1288A>C (p.Asn430His) | |
| 16 | g.3778084C>A | CA493276291 | CREBBP | c.2040G>T (p.Gly680=) c.1926G>T (p.Gly642=) c.645G>T (p.Gly215=) c.89G>T c.353G>T n.202G>T c.1986G>T (p.Gly662=) c.1287G>T (p.Gly429=) | dbSNP |
| 16 | g.3778084C= | CA2202958772 | CREBBP | c.2040G= (p.Gly680=) c.1926G= (p.Gly642=) c.645G= (p.Gly215=) c.89G= c.353G= n.202G= c.1986G= (p.Gly662=) c.1287G= (p.Gly429=) | |
| 16 | g.3778084C>G | CA493276292 | CREBBP | c.2040G>C (p.Gly680=) c.1926G>C (p.Gly642=) c.645G>C (p.Gly215=) c.89G>C c.353G>C n.202G>C c.1986G>C (p.Gly662=) c.1287G>C (p.Gly429=) | dbSNP |
| 16 | g.3778084C>T | CA7870294 | CREBBP | c.2040G>A (p.Gly680=) c.1926G>A (p.Gly642=) c.645G>A (p.Gly215=) c.89G>A c.353G>A n.202G>A c.1986G>A (p.Gly662=) c.1287G>A (p.Gly429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778085C>A | CA394554526 | CREBBP | c.2039G>T (p.Gly680Val) c.1925G>T (p.Gly642Val) c.644G>T (p.Gly215Val) c.88G>T c.352G>T n.201G>T c.1985G>T (p.Gly662Val) c.1286G>T (p.Gly429Val) | dbSNP |
| 16 | g.3778085C>G | CA394554524 | CREBBP | c.2039G>C (p.Gly680Ala) c.1925G>C (p.Gly642Ala) c.644G>C (p.Gly215Ala) c.88G>C c.352G>C n.201G>C c.1985G>C (p.Gly662Ala) c.1286G>C (p.Gly429Ala) | dbSNP |
| 16 | g.3778085C>T | CA394554522 | CREBBP | c.2039G>A (p.Gly680Glu) c.1925G>A (p.Gly642Glu) c.644G>A (p.Gly215Glu) c.88G>A c.352G>A n.201G>A c.1985G>A (p.Gly662Glu) c.1286G>A (p.Gly429Glu) | dbSNP |
| 16 | g.3778086C>A | CA394554528 | CREBBP | c.2038G>T (p.Gly680Trp) c.1924G>T (p.Gly642Trp) c.643G>T (p.Gly215Trp) c.87G>T c.351G>T n.200G>T c.1984G>T (p.Gly662Trp) c.1285G>T (p.Gly429Trp) | dbSNP |
| 16 | g.3778086C= | CA2202958776 | CREBBP | c.2038G= (p.Gly680=) c.1924G= (p.Gly642=) c.643G= (p.Gly215=) c.87G= c.351G= n.200G= c.1984G= (p.Gly662=) c.1285G= (p.Gly429=) | |
| 16 | g.3778086C>G | CA394554529 | CREBBP | c.2038G>C (p.Gly680Arg) c.1924G>C (p.Gly642Arg) c.643G>C (p.Gly215Arg) c.87G>C c.351G>C n.200G>C c.1984G>C (p.Gly662Arg) c.1285G>C (p.Gly429Arg) | dbSNP |
| 16 | g.3778086C>T | CA394554531 | CREBBP | c.2038G>A (p.Gly680Arg) c.1924G>A (p.Gly642Arg) c.643G>A (p.Gly215Arg) c.87G>A c.351G>A n.200G>A c.1984G>A (p.Gly662Arg) c.1285G>A (p.Gly429Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778086_3778092delinsCCAAGAT | CA2202958778 | CREBBP | c.2032_2038delinsATCTTGG (p.Ile678=) c.1918_1924delinsATCTTGG (p.Ile640=) c.637_643delinsATCTTGG (p.Ile213=) c.81_87delinsATCTTGG c.345_351delinsATCTTGG n.194_200delinsATCTTGG c.1978_1984delinsATCTTGG (p.Ile660=) c.1279_1285delinsATCTTGG (p.Ile427=) | |
| 16 | g.3778087C>A | CA394554533 | CREBBP | c.2037G>T (p.Leu679Phe) c.1923G>T (p.Leu641Phe) c.642G>T (p.Leu214Phe) c.86G>T c.350G>T n.199G>T c.1983G>T (p.Leu661Phe) c.1284G>T (p.Leu428Phe) | dbSNP |
| 16 | g.3778087C= | CA2202958780 | CREBBP | c.2037G= (p.Leu679=) c.1923G= (p.Leu641=) c.642G= (p.Leu214=) c.86G= c.350G= n.199G= c.1983G= (p.Leu661=) c.1284G= (p.Leu428=) | |
| 16 | g.3778087C>G | CA394554534 | CREBBP | c.2037G>C (p.Leu679Phe) c.1923G>C (p.Leu641Phe) c.642G>C (p.Leu214Phe) c.86G>C c.350G>C n.199G>C c.1983G>C (p.Leu661Phe) c.1284G>C (p.Leu428Phe) | dbSNP |
| 16 | g.3778087C>T | CA493276293 | CREBBP | c.2037G>A (p.Leu679=) c.1923G>A (p.Leu641=) c.642G>A (p.Leu214=) c.86G>A c.350G>A n.199G>A c.1983G>A (p.Leu661=) c.1284G>A (p.Leu428=) | dbSNP |
| 16 | g.3778087_3778092del | CA720710645 | CREBBP | c.2032_2037del (p.Ile678_Leu679del) c.1918_1923del (p.Ile640_Leu641del) c.637_642del (p.Ile213_Leu214del) c.81_86del c.345_350del n.194_199del c.1978_1983del (p.Ile660_Leu661del) c.1279_1284del (p.Ile427_Leu428del) | dbSNP gnomAD v4 |
| 16 | g.3778088A= | CA2202958782 | CREBBP | c.2036T= (p.Leu679=) c.1922T= (p.Leu641=) c.641T= (p.Leu214=) c.85T= c.349T= n.198T= c.1982T= (p.Leu661=) c.1283T= (p.Leu428=) | |
| 16 | g.3778088A>C | CA394554537 | CREBBP | c.2036T>G (p.Leu679Trp) c.1922T>G (p.Leu641Trp) c.641T>G (p.Leu214Trp) c.85T>G c.349T>G n.198T>G c.1982T>G (p.Leu661Trp) c.1283T>G (p.Leu428Trp) | |
| 16 | g.3778088A>G | CA394554538 | CREBBP | c.2036T>C (p.Leu679Ser) c.1922T>C (p.Leu641Ser) c.641T>C (p.Leu214Ser) c.85T>C c.349T>C n.198T>C c.1982T>C (p.Leu661Ser) c.1283T>C (p.Leu428Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3778088A>T | CA394554539 | CREBBP | c.2036T>A (p.Leu679Ter) c.1922T>A (p.Leu641Ter) c.641T>A (p.Leu214Ter) c.85T>A c.349T>A n.198T>A c.1982T>A (p.Leu661Ter) c.1283T>A (p.Leu428Ter) | dbSNP |
| 16 | g.3778089A>C | CA394554541 | CREBBP | c.2035T>G (p.Leu679Val) c.1921T>G (p.Leu641Val) c.640T>G (p.Leu214Val) c.84T>G c.348T>G n.197T>G c.1981T>G (p.Leu661Val) c.1282T>G (p.Leu428Val) | |
| 16 | g.3778089A>G | CA493276294 | CREBBP | c.2035T>C (p.Leu679=) c.1921T>C (p.Leu641=) c.640T>C (p.Leu214=) c.84T>C c.348T>C n.197T>C c.1981T>C (p.Leu661=) c.1282T>C (p.Leu428=) | |
| 16 | g.3778089A>T | CA394554543 | CREBBP | c.2035T>A (p.Leu679Met) c.1921T>A (p.Leu641Met) c.640T>A (p.Leu214Met) c.84T>A c.348T>A n.197T>A c.1981T>A (p.Leu661Met) c.1282T>A (p.Leu428Met) | |
| 16 | g.3778090G>A | CA222679 | CREBBP | c.2034C>T (p.Ile678=) c.1920C>T (p.Ile640=) c.639C>T (p.Ile213=) c.83C>T c.347C>T n.196C>T c.1980C>T (p.Ile660=) c.1281C>T (p.Ile427=) | ClinVar dbSNP |
| 16 | g.3778090G>C | CA394554544 | CREBBP | c.2034C>G (p.Ile678Met) c.1920C>G (p.Ile640Met) c.639C>G (p.Ile213Met) c.83C>G c.347C>G n.196C>G c.1980C>G (p.Ile660Met) c.1281C>G (p.Ile427Met) | |
| 16 | g.3778090G= | CA2202958786 | CREBBP | c.2034C= (p.Ile678=) c.1920C= (p.Ile640=) c.639C= (p.Ile213=) c.83C= c.347C= n.196C= c.1980C= (p.Ile660=) c.1281C= (p.Ile427=) | |
| 16 | g.3778090G>T | CA493276295 | CREBBP | c.2034C>A (p.Ile678=) c.1920C>A (p.Ile640=) c.639C>A (p.Ile213=) c.83C>A c.347C>A n.196C>A c.1980C>A (p.Ile660=) c.1281C>A (p.Ile427=) | |
| 16 | g.3778091A= | CA2202958794 | CREBBP | c.2033T= (p.Ile678=) c.1919T= (p.Ile640=) c.638T= (p.Ile213=) c.82T= c.346T= n.195T= c.1979T= (p.Ile660=) c.1280T= (p.Ile427=) | |
| 16 | g.3778091A>C | CA394554549 | CREBBP | c.2033T>G (p.Ile678Ser) c.1919T>G (p.Ile640Ser) c.638T>G (p.Ile213Ser) c.82T>G c.346T>G n.195T>G c.1979T>G (p.Ile660Ser) c.1280T>G (p.Ile427Ser) | |
| 16 | g.3778091A>G | CA394554551 | CREBBP | c.2033T>C (p.Ile678Thr) c.1919T>C (p.Ile640Thr) c.638T>C (p.Ile213Thr) c.82T>C c.346T>C n.195T>C c.1979T>C (p.Ile660Thr) c.1280T>C (p.Ile427Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778091A>T | CA394554547 | CREBBP | c.2033T>A (p.Ile678Asn) c.1919T>A (p.Ile640Asn) c.638T>A (p.Ile213Asn) c.82T>A c.346T>A n.195T>A c.1979T>A (p.Ile660Asn) c.1280T>A (p.Ile427Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778092T>A | CA394554553 | CREBBP | c.2032A>T (p.Ile678Phe) c.1918A>T (p.Ile640Phe) c.637A>T (p.Ile213Phe) c.81A>T c.345A>T n.194A>T c.1978A>T (p.Ile660Phe) c.1279A>T (p.Ile427Phe) | dbSNP |
| 16 | g.3778092T>C | CA394554555 | CREBBP | c.2032A>G (p.Ile678Val) c.1918A>G (p.Ile640Val) c.637A>G (p.Ile213Val) c.81A>G c.345A>G n.194A>G c.1978A>G (p.Ile660Val) c.1279A>G (p.Ile427Val) | |
| 16 | g.3778092T>G | CA7870295 | CREBBP | c.2032A>C (p.Ile678Leu) c.1918A>C (p.Ile640Leu) c.637A>C (p.Ile213Leu) c.81A>C c.345A>C n.194A>C c.1978A>C (p.Ile660Leu) c.1279A>C (p.Ile427Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3778092T= | CA2202958801 | CREBBP | c.2032A= (p.Ile678=) c.1918A= (p.Ile640=) c.637A= (p.Ile213=) c.81A= c.345A= n.194A= c.1978A= (p.Ile660=) c.1279A= (p.Ile427=) | |
| 16 | g.3778092_3778093delinsTG | CA2202958804 | CREBBP | c.2031_2032delinsCA (p.Gly677=) c.1917_1918delinsCA (p.Gly639=) c.636_637delinsCA (p.Gly212=) c.80_81delinsCA c.344_345delinsCA n.193_194delinsCA c.1977_1978delinsCA (p.Gly659=) c.1278_1279delinsCA (p.Gly426=) | |
| 16 | g.3778093del | CA658798530 | CREBBP | c.2031del (p.Ile678SerfsTer17) c.1917del (p.Ile640SerfsTer17) c.636del (p.Ile213SerfsTer17) c.80del c.344del n.193del c.1977del (p.Ile660SerfsTer17) c.1278del (p.Ile427SerfsTer17) | ClinVar dbSNP |
| 16 | g.3778093G>A | CA493276296 | CREBBP | c.2031C>T (p.Gly677=) c.1917C>T (p.Gly639=) c.636C>T (p.Gly212=) c.80C>T c.344C>T n.193C>T c.1977C>T (p.Gly659=) c.1278C>T (p.Gly426=) | ClinVar dbSNP |
| 16 | g.3778093G>C | CA493276297 | CREBBP | c.2031C>G (p.Gly677=) c.1917C>G (p.Gly639=) c.636C>G (p.Gly212=) c.80C>G c.344C>G n.193C>G c.1977C>G (p.Gly659=) c.1278C>G (p.Gly426=) | dbSNP |
| 16 | g.3778093G>T | CA493276298 | CREBBP | c.2031C>A (p.Gly677=) c.1917C>A (p.Gly639=) c.636C>A (p.Gly212=) c.80C>A c.344C>A n.193C>A c.1977C>A (p.Gly659=) c.1278C>A (p.Gly426=) | dbSNP |
| 16 | g.3778094C>A | CA394554559 | CREBBP | c.2030G>T (p.Gly677Val) c.1916G>T (p.Gly639Val) c.635G>T (p.Gly212Val) c.79G>T c.343G>T n.192G>T c.1976G>T (p.Gly659Val) c.1277G>T (p.Gly426Val) | dbSNP gnomAD v4 |
| 16 | g.3778094C>G | CA394554562 | CREBBP | c.2030G>C (p.Gly677Ala) c.1916G>C (p.Gly639Ala) c.635G>C (p.Gly212Ala) c.79G>C c.343G>C n.192G>C c.1976G>C (p.Gly659Ala) c.1277G>C (p.Gly426Ala) | dbSNP |
| 16 | g.3778094C>T | CA394554564 | CREBBP | c.2030G>A (p.Gly677Asp) c.1916G>A (p.Gly639Asp) c.635G>A (p.Gly212Asp) c.79G>A c.343G>A n.192G>A c.1976G>A (p.Gly659Asp) c.1277G>A (p.Gly426Asp) | dbSNP gnomAD v4 |
| 16 | g.3778095C>A | CA394554567 | CREBBP | c.2029G>T (p.Gly677Cys) c.1915G>T (p.Gly639Cys) c.634G>T (p.Gly212Cys) c.78G>T c.342G>T n.191G>T c.1975G>T (p.Gly659Cys) c.1276G>T (p.Gly426Cys) | dbSNP |
| 16 | g.3778095C>G | CA394554568 | CREBBP | c.2029G>C (p.Gly677Arg) c.1915G>C (p.Gly639Arg) c.634G>C (p.Gly212Arg) c.78G>C c.342G>C n.191G>C c.1975G>C (p.Gly659Arg) c.1276G>C (p.Gly426Arg) | dbSNP |
| 16 | g.3778095C>T | CA394554569 | CREBBP | c.2029G>A (p.Gly677Ser) c.1915G>A (p.Gly639Ser) c.634G>A (p.Gly212Ser) c.78G>A c.342G>A n.191G>A c.1975G>A (p.Gly659Ser) c.1276G>A (p.Gly426Ser) | dbSNP |
| 16 | g.3778096T>A | CA394554571 | CREBBP | c.2028A>T (p.Gln676His) c.1914A>T (p.Gln638His) c.633A>T (p.Gln211His) c.77A>T c.341A>T n.190A>T c.1974A>T (p.Gln658His) c.1275A>T (p.Gln425His) | dbSNP |
| 16 | g.3778096T>C | CA10604226 | CREBBP | c.2028A>G (p.Gln676=) c.1914A>G (p.Gln638=) c.633A>G (p.Gln211=) c.77A>G c.341A>G n.190A>G c.1974A>G (p.Gln658=) c.1275A>G (p.Gln425=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778096T>G | CA394554574 | CREBBP | c.2028A>C (p.Gln676His) c.1914A>C (p.Gln638His) c.633A>C (p.Gln211His) c.77A>C c.341A>C n.190A>C c.1974A>C (p.Gln658His) c.1275A>C (p.Gln425His) | |
| 16 | g.3778096T= | CA2202958813 | CREBBP | c.2028A= (p.Gln676=) c.1914A= (p.Gln638=) c.633A= (p.Gln211=) c.77A= c.341A= n.190A= c.1974A= (p.Gln658=) c.1275A= (p.Gln425=) | |
| 16 | g.3778097T>A | CA394554578 | CREBBP | c.2027A>T (p.Gln676Leu) c.1913A>T (p.Gln638Leu) c.632A>T (p.Gln211Leu) c.76A>T c.340A>T n.189A>T c.1973A>T (p.Gln658Leu) c.1274A>T (p.Gln425Leu) | dbSNP |
| 16 | g.3778097T>C | CA394554580 | CREBBP | c.2027A>G (p.Gln676Arg) c.1913A>G (p.Gln638Arg) c.632A>G (p.Gln211Arg) c.76A>G c.340A>G n.189A>G c.1973A>G (p.Gln658Arg) c.1274A>G (p.Gln425Arg) | |
| 16 | g.3778097T>G | CA394554576 | CREBBP | c.2027A>C (p.Gln676Pro) c.1913A>C (p.Gln638Pro) c.632A>C (p.Gln211Pro) c.76A>C c.340A>C n.189A>C c.1973A>C (p.Gln658Pro) c.1274A>C (p.Gln425Pro) | |
| 16 | g.3778097_3778098delinsTG | CA2202958817 | CREBBP | c.2026_2027delinsCA (p.Gln676=) c.1912_1913delinsCA (p.Gln638=) c.631_632delinsCA (p.Gln211=) c.75_76delinsCA c.339_340delinsCA n.188_189delinsCA c.1972_1973delinsCA (p.Gln658=) c.1273_1274delinsCA (p.Gln425=) | |
| 16 | g.3778098del | CA271370 | CREBBP | c.2026del (p.Gln676LysfsTer19) c.1912del (p.Gln638LysfsTer19) c.631del (p.Gln211LysfsTer19) c.75del c.339del n.188del c.1972del (p.Gln658LysfsTer19) c.1273del (p.Gln425LysfsTer19) | ClinVar dbSNP |
| 16 | g.3778098G>A | CA394554583 | CREBBP | c.2026C>T (p.Gln676Ter) c.1912C>T (p.Gln638Ter) c.631C>T (p.Gln211Ter) c.75C>T c.339C>T n.188C>T c.1972C>T (p.Gln658Ter) c.1273C>T (p.Gln425Ter) | |
| 16 | g.3778098G>C | CA394554585 | CREBBP | c.2026C>G (p.Gln676Glu) c.1912C>G (p.Gln638Glu) c.631C>G (p.Gln211Glu) c.75C>G c.339C>G n.188C>G c.1972C>G (p.Gln658Glu) c.1273C>G (p.Gln425Glu) | gnomAD v4 |
| 16 | g.3778098G>T | CA394554588 | CREBBP | c.2026C>A (p.Gln676Lys) c.1912C>A (p.Gln638Lys) c.631C>A (p.Gln211Lys) c.75C>A c.339C>A n.188C>A c.1972C>A (p.Gln658Lys) c.1273C>A (p.Gln425Lys) | |
| 16 | g.3778099T>A | CA394554590 | CREBBP | c.2025A>T (p.Lys675Asn) c.1911A>T (p.Lys637Asn) c.630A>T (p.Lys210Asn) c.74A>T c.338A>T n.187A>T c.1971A>T (p.Lys657Asn) c.1272A>T (p.Lys424Asn) | dbSNP |
| 16 | g.3778099T>C | CA493276299 | CREBBP | c.2025A>G (p.Lys675=) c.1911A>G (p.Lys637=) c.630A>G (p.Lys210=) c.74A>G c.338A>G n.187A>G c.1971A>G (p.Lys657=) c.1272A>G (p.Lys424=) | |
| 16 | g.3778099T>G | CA394554592 | CREBBP | c.2025A>C (p.Lys675Asn) c.1911A>C (p.Lys637Asn) c.630A>C (p.Lys210Asn) c.74A>C c.338A>C n.187A>C c.1971A>C (p.Lys657Asn) c.1272A>C (p.Lys424Asn) | dbSNP |
| 16 | g.3778100T>A | CA394554597 | CREBBP | c.2024A>T (p.Lys675Ile) c.1910A>T (p.Lys637Ile) c.629A>T (p.Lys210Ile) c.73A>T c.337A>T n.186A>T c.1970A>T (p.Lys657Ile) c.1271A>T (p.Lys424Ile) | dbSNP |
| 16 | g.3778100T>C | CA394554594 | CREBBP | c.2024A>G (p.Lys675Arg) c.1910A>G (p.Lys637Arg) c.629A>G (p.Lys210Arg) c.73A>G c.337A>G n.186A>G c.1970A>G (p.Lys657Arg) c.1271A>G (p.Lys424Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778100T>G | CA394554596 | CREBBP | c.2024A>C (p.Lys675Thr) c.1910A>C (p.Lys637Thr) c.629A>C (p.Lys210Thr) c.73A>C c.337A>C n.186A>C c.1970A>C (p.Lys657Thr) c.1271A>C (p.Lys424Thr) | |
| 16 | g.3778100T= | CA2202958824 | CREBBP | c.2024A= (p.Lys675=) c.1910A= (p.Lys637=) c.629A= (p.Lys210=) c.73A= c.337A= n.186A= c.1970A= (p.Lys657=) c.1271A= (p.Lys424=) | |
| 16 | g.3778101T>A | CA394554599 | CREBBP | c.2023A>T (p.Lys675Ter) c.1909A>T (p.Lys637Ter) c.628A>T (p.Lys210Ter) c.72A>T c.336A>T n.185A>T c.1969A>T (p.Lys657Ter) c.1270A>T (p.Lys424Ter) | dbSNP |
| 16 | g.3778101T>C | CA394554601 | CREBBP | c.2023A>G (p.Lys675Glu) c.1909A>G (p.Lys637Glu) c.628A>G (p.Lys210Glu) c.72A>G c.336A>G n.185A>G c.1969A>G (p.Lys657Glu) c.1270A>G (p.Lys424Glu) | dbSNP |
| 16 | g.3778101T>G | CA394554602 | CREBBP | c.2023A>C (p.Lys675Gln) c.1909A>C (p.Lys637Gln) c.628A>C (p.Lys210Gln) c.72A>C c.336A>C n.185A>C c.1969A>C (p.Lys657Gln) c.1270A>C (p.Lys424Gln) | |
| 16 | g.3778102A= | CA2202958826 | CREBBP | c.2022T= (p.His674=) c.1908T= (p.His636=) c.627T= (p.His209=) c.71T= c.335T= n.184T= c.1968T= (p.His656=) c.1269T= (p.His423=) | |
| 16 | g.3778102A>C | CA394554604 | CREBBP | c.2022T>G (p.His674Gln) c.1908T>G (p.His636Gln) c.627T>G (p.His209Gln) c.71T>G c.335T>G n.184T>G c.1968T>G (p.His656Gln) c.1269T>G (p.His423Gln) | |
| 16 | g.3778102A>G | CA493276300 | CREBBP | c.2022T>C (p.His674=) c.1908T>C (p.His636=) c.627T>C (p.His209=) c.71T>C c.335T>C n.184T>C c.1968T>C (p.His656=) c.1269T>C (p.His423=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778102A>T | CA394554606 | CREBBP | c.2022T>A (p.His674Gln) c.1908T>A (p.His636Gln) c.627T>A (p.His209Gln) c.71T>A c.335T>A n.184T>A c.1968T>A (p.His656Gln) c.1269T>A (p.His423Gln) | dbSNP |
| 16 | g.3778103T>A | CA394554613 | CREBBP | c.2021A>T (p.His674Leu) c.1907A>T (p.His636Leu) c.626A>T (p.His209Leu) c.70A>T c.334A>T n.183A>T c.1967A>T (p.His656Leu) c.1268A>T (p.His423Leu) | dbSNP |
| 16 | g.3778103T>C | CA394554611 | CREBBP | c.2021A>G (p.His674Arg) c.1907A>G (p.His636Arg) c.626A>G (p.His209Arg) c.70A>G c.334A>G n.183A>G c.1967A>G (p.His656Arg) c.1268A>G (p.His423Arg) | |
| 16 | g.3778103T>G | CA394554609 | CREBBP | c.2021A>C (p.His674Pro) c.1907A>C (p.His636Pro) c.626A>C (p.His209Pro) c.70A>C c.334A>C n.183A>C c.1967A>C (p.His656Pro) c.1268A>C (p.His423Pro) | |
| 16 | g.3778104G>A | CA394554615 | CREBBP | c.2020C>T (p.His674Tyr) c.1906C>T (p.His636Tyr) c.625C>T (p.His209Tyr) c.69C>T c.333C>T n.182C>T c.1966C>T (p.His656Tyr) c.1267C>T (p.His423Tyr) | dbSNP |
| 16 | g.3778104G>C | CA394554618 | CREBBP | c.2020C>G (p.His674Asp) c.1906C>G (p.His636Asp) c.625C>G (p.His209Asp) c.69C>G c.333C>G n.182C>G c.1966C>G (p.His656Asp) c.1267C>G (p.His423Asp) | dbSNP |
| 16 | g.3778104G>T | CA394554616 | CREBBP | c.2020C>A (p.His674Asn) c.1906C>A (p.His636Asn) c.625C>A (p.His209Asn) c.69C>A c.333C>A n.182C>A c.1966C>A (p.His656Asn) c.1267C>A (p.His423Asn) | dbSNP |
| 16 | g.3778105T>A | CA394554620 | CREBBP | c.2019A>T (p.Leu673Phe) c.1905A>T (p.Leu635Phe) c.624A>T (p.Leu208Phe) c.68A>T c.332A>T n.181A>T c.1965A>T (p.Leu655Phe) c.1266A>T (p.Leu422Phe) | |
| 16 | g.3778105T>C | CA493276301 | CREBBP | c.2019A>G (p.Leu673=) c.1905A>G (p.Leu635=) c.624A>G (p.Leu208=) c.68A>G c.332A>G n.181A>G c.1965A>G (p.Leu655=) c.1266A>G (p.Leu422=) | |
| 16 | g.3778105T>G | CA394554622 | CREBBP | c.2019A>C (p.Leu673Phe) c.1905A>C (p.Leu635Phe) c.624A>C (p.Leu208Phe) c.68A>C c.332A>C n.181A>C c.1965A>C (p.Leu655Phe) c.1266A>C (p.Leu422Phe) | |
| 16 | g.3778106A>C | CA394554624 | CREBBP | c.2018T>G (p.Leu673Ter) c.1904T>G (p.Leu635Ter) c.623T>G (p.Leu208Ter) c.67T>G c.331T>G n.180T>G c.1964T>G (p.Leu655Ter) c.1265T>G (p.Leu422Ter) | |
| 16 | g.3778106A>G | CA394554627 | CREBBP | c.2018T>C (p.Leu673Ser) c.1904T>C (p.Leu635Ser) c.623T>C (p.Leu208Ser) c.67T>C c.331T>C n.180T>C c.1964T>C (p.Leu655Ser) c.1265T>C (p.Leu422Ser) | |
| 16 | g.3778106A>T | CA394554625 | CREBBP | c.2018T>A (p.Leu673Ter) c.1904T>A (p.Leu635Ter) c.623T>A (p.Leu208Ter) c.67T>A c.331T>A n.180T>A c.1964T>A (p.Leu655Ter) c.1265T>A (p.Leu422Ter) | dbSNP COSMIC |
| 16 | g.3778107A>C | CA394554629 | CREBBP | c.2017T>G (p.Leu673Val) c.1903T>G (p.Leu635Val) c.622T>G (p.Leu208Val) c.66T>G c.330T>G n.179T>G c.1963T>G (p.Leu655Val) c.1264T>G (p.Leu422Val) | dbSNP |
| 16 | g.3778107A>G | CA493276302 | CREBBP | c.2017T>C (p.Leu673=) c.1903T>C (p.Leu635=) c.622T>C (p.Leu208=) c.66T>C c.330T>C n.179T>C c.1963T>C (p.Leu655=) c.1264T>C (p.Leu422=) | dbSNP |
| 16 | g.3778107A>T | CA394554630 | CREBBP | c.2017T>A (p.Leu673Ile) c.1903T>A (p.Leu635Ile) c.622T>A (p.Leu208Ile) c.66T>A c.330T>A n.179T>A c.1963T>A (p.Leu655Ile) c.1264T>A (p.Leu422Ile) | dbSNP |
| 16 | g.3778108A>C | CA493276303 | CREBBP | c.2016T>G (p.Arg672=) c.1902T>G (p.Arg634=) c.621T>G (p.Arg207=) c.65T>G c.329T>G n.178T>G c.1962T>G (p.Arg654=) c.1263T>G (p.Arg421=) | dbSNP |
| 16 | g.3778108A>G | CA493276304 | CREBBP | c.2016T>C (p.Arg672=) c.1902T>C (p.Arg634=) c.621T>C (p.Arg207=) c.65T>C c.329T>C n.178T>C c.1962T>C (p.Arg654=) c.1263T>C (p.Arg421=) | dbSNP |
| 16 | g.3778108A>T | CA493276305 | CREBBP | c.2016T>A (p.Arg672=) c.1902T>A (p.Arg634=) c.621T>A (p.Arg207=) c.65T>A c.329T>A n.178T>A c.1962T>A (p.Arg654=) c.1263T>A (p.Arg421=) | dbSNP |
| 16 | g.3778109C>A | CA394554632 | CREBBP | c.2015G>T (p.Arg672Leu) c.1901G>T (p.Arg634Leu) c.620G>T (p.Arg207Leu) c.64G>T c.328G>T n.177G>T c.1961G>T (p.Arg654Leu) c.1262G>T (p.Arg421Leu) | dbSNP |
| 16 | g.3778109C>G | CA394554633 | CREBBP | c.2015G>C (p.Arg672Pro) c.1901G>C (p.Arg634Pro) c.620G>C (p.Arg207Pro) c.64G>C c.328G>C n.177G>C c.1961G>C (p.Arg654Pro) c.1262G>C (p.Arg421Pro) | dbSNP |
| 16 | g.3778109C>T | CA394554634 | CREBBP | c.2015G>A (p.Arg672His) c.1901G>A (p.Arg634His) c.620G>A (p.Arg207His) c.64G>A c.328G>A n.177G>A c.1961G>A (p.Arg654His) c.1262G>A (p.Arg421His) | dbSNP gnomAD v4 COSMIC |
| 16 | g.3778110G>A | CA394554637 | CREBBP | c.2014C>T (p.Arg672Cys) c.1900C>T (p.Arg634Cys) c.619C>T (p.Arg207Cys) c.63C>T c.327C>T n.176C>T c.1960C>T (p.Arg654Cys) c.1261C>T (p.Arg421Cys) | ClinVar dbSNP |
| 16 | g.3778110G>C | CA394554639 | CREBBP | c.2014C>G (p.Arg672Gly) c.1900C>G (p.Arg634Gly) c.619C>G (p.Arg207Gly) c.63C>G c.327C>G n.176C>G c.1960C>G (p.Arg654Gly) c.1261C>G (p.Arg421Gly) | dbSNP |
| 16 | g.3778110G>T | CA394554641 | CREBBP | c.2014C>A (p.Arg672Ser) c.1900C>A (p.Arg634Ser) c.619C>A (p.Arg207Ser) c.63C>A c.327C>A n.176C>A c.1960C>A (p.Arg654Ser) c.1261C>A (p.Arg421Ser) | dbSNP |
| 16 | g.3778111C>A | CA7870297 | CREBBP | c.2013G>T (p.Ser671=) c.1899G>T (p.Ser633=) c.618G>T (p.Ser206=) c.62G>T c.326G>T n.175G>T c.1959G>T (p.Ser653=) c.1260G>T (p.Ser420=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778111C= | CA2202958835 | CREBBP | c.2013G= (p.Ser671=) c.1899G= (p.Ser633=) c.618G= (p.Ser206=) c.62G= c.326G= n.175G= c.1959G= (p.Ser653=) c.1260G= (p.Ser420=) | |
| 16 | g.3778111C>G | CA493276306 | CREBBP | c.2013G>C (p.Ser671=) c.1899G>C (p.Ser633=) c.618G>C (p.Ser206=) c.62G>C c.326G>C n.175G>C c.1959G>C (p.Ser653=) c.1260G>C (p.Ser420=) | dbSNP |
| 16 | g.3778111C>T | CA7870296 | CREBBP | c.2013G>A (p.Ser671=) c.1899G>A (p.Ser633=) c.618G>A (p.Ser206=) c.62G>A c.326G>A n.175G>A c.1959G>A (p.Ser653=) c.1260G>A (p.Ser420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778112G>A | CA394554644 | CREBBP | c.2012C>T (p.Ser671Leu) c.1898C>T (p.Ser633Leu) c.617C>T (p.Ser206Leu) c.61C>T c.325C>T n.174C>T c.1958C>T (p.Ser653Leu) c.1259C>T (p.Ser420Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3778112G>C | CA394554645 | CREBBP | c.2012C>G (p.Ser671Trp) c.1898C>G (p.Ser633Trp) c.617C>G (p.Ser206Trp) c.61C>G c.325C>G n.174C>G c.1958C>G (p.Ser653Trp) c.1259C>G (p.Ser420Trp) | dbSNP |
| 16 | g.3778112G= | CA2202958839 | CREBBP | c.2012C= (p.Ser671=) c.1898C= (p.Ser633=) c.617C= (p.Ser206=) c.61C= c.325C= n.174C= c.1958C= (p.Ser653=) c.1259C= (p.Ser420=) | |
| 16 | g.3778112G>T | CA394554647 | CREBBP | c.2012C>A (p.Ser671Ter) c.1898C>A (p.Ser633Ter) c.617C>A (p.Ser206Ter) c.61C>A c.325C>A n.174C>A c.1958C>A (p.Ser653Ter) c.1259C>A (p.Ser420Ter) | COSMIC |
| 16 | g.3778113A>C | CA394554653 | CREBBP | c.2011T>G (p.Ser671Ala) c.1897T>G (p.Ser633Ala) c.616T>G (p.Ser206Ala) c.60T>G c.324T>G n.173T>G c.1957T>G (p.Ser653Ala) c.1258T>G (p.Ser420Ala) | dbSNP |
| 16 | g.3778113A>G | CA394554651 | CREBBP | c.2011T>C (p.Ser671Pro) c.1897T>C (p.Ser633Pro) c.616T>C (p.Ser206Pro) c.60T>C c.324T>C n.173T>C c.1957T>C (p.Ser653Pro) c.1258T>C (p.Ser420Pro) | dbSNP |
| 16 | g.3778113A>T | CA394554649 | CREBBP | c.2011T>A (p.Ser671Thr) c.1897T>A (p.Ser633Thr) c.616T>A (p.Ser206Thr) c.60T>A c.324T>A n.173T>A c.1957T>A (p.Ser653Thr) c.1258T>A (p.Ser420Thr) | dbSNP |
| 16 | g.3778114C>A | CA394554655 | CREBBP | c.2010G>T (p.Arg670Ser) c.1896G>T (p.Arg632Ser) c.615G>T (p.Arg205Ser) c.59G>T c.323G>T n.172G>T c.1956G>T (p.Arg652Ser) c.1257G>T (p.Arg419Ser) | dbSNP |
| 16 | g.3778114C>G | CA394554657 | CREBBP | c.2010G>C (p.Arg670Ser) c.1896G>C (p.Arg632Ser) c.615G>C (p.Arg205Ser) c.59G>C c.323G>C n.172G>C c.1956G>C (p.Arg652Ser) c.1257G>C (p.Arg419Ser) | dbSNP |
| 16 | g.3778114C>T | CA493276310 | CREBBP | c.2010G>A (p.Arg670=) c.1896G>A (p.Arg632=) c.615G>A (p.Arg205=) c.59G>A c.323G>A n.172G>A c.1956G>A (p.Arg652=) c.1257G>A (p.Arg419=) | dbSNP |
| 16 | g.3778115C>A | CA394554660 | CREBBP | c.2009G>T (p.Arg670Met) c.1895G>T (p.Arg632Met) c.614G>T (p.Arg205Met) c.58G>T c.322G>T n.171G>T c.1955G>T (p.Arg652Met) c.1256G>T (p.Arg419Met) | dbSNP |
| 16 | g.3778115C>G | CA394554661 | CREBBP | c.2009G>C (p.Arg670Thr) c.1895G>C (p.Arg632Thr) c.614G>C (p.Arg205Thr) c.58G>C c.322G>C n.171G>C c.1955G>C (p.Arg652Thr) c.1256G>C (p.Arg419Thr) | dbSNP |
| 16 | g.3778115C>T | CA394554663 | CREBBP | c.2009G>A (p.Arg670Lys) c.1895G>A (p.Arg632Lys) c.614G>A (p.Arg205Lys) c.58G>A c.322G>A n.171G>A c.1955G>A (p.Arg652Lys) c.1256G>A (p.Arg419Lys) | dbSNP |
| 16 | g.3778116T>A | CA394554666 | CREBBP | c.2008A>T (p.Arg670Trp) c.1894A>T (p.Arg632Trp) c.613A>T (p.Arg205Trp) c.57A>T c.321A>T n.170A>T c.1954A>T (p.Arg652Trp) c.1255A>T (p.Arg419Trp) | |
| 16 | g.3778116T>C | CA394554667 | CREBBP | c.2008A>G (p.Arg670Gly) c.1894A>G (p.Arg632Gly) c.613A>G (p.Arg205Gly) c.57A>G c.321A>G n.170A>G c.1954A>G (p.Arg652Gly) c.1255A>G (p.Arg419Gly) | dbSNP |
| 16 | g.3778116T>G | CA493276313 | CREBBP | c.2008A>C (p.Arg670=) c.1894A>C (p.Arg632=) c.613A>C (p.Arg205=) c.57A>C c.321A>C n.170A>C c.1954A>C (p.Arg652=) c.1255A>C (p.Arg419=) | |
| 16 | g.3778117C>A | CA493276316 | CREBBP | c.2007G>T (p.Arg669=) c.1893G>T (p.Arg631=) c.612G>T (p.Arg204=) c.56G>T c.320G>T n.169G>T c.1953G>T (p.Arg651=) c.1254G>T (p.Arg418=) | dbSNP |
| 16 | g.3778117C= | CA2202958841 | CREBBP | c.2007G= (p.Arg669=) c.1893G= (p.Arg631=) c.612G= (p.Arg204=) c.56G= c.320G= n.169G= c.1953G= (p.Arg651=) c.1254G= (p.Arg418=) | |
| 16 | g.3778117C>G | CA493276315 | CREBBP | c.2007G>C (p.Arg669=) c.1893G>C (p.Arg631=) c.612G>C (p.Arg204=) c.56G>C c.320G>C n.169G>C c.1953G>C (p.Arg651=) c.1254G>C (p.Arg418=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778117C>T | CA493276314 | CREBBP | c.2007G>A (p.Arg669=) c.1893G>A (p.Arg631=) c.612G>A (p.Arg204=) c.56G>A c.320G>A n.169G>A c.1953G>A (p.Arg651=) c.1254G>A (p.Arg418=) | dbSNP gnomAD v4 |
| 16 | g.3778117_3778119delinsCCG | CA2202958843 | CREBBP | c.2005_2007delinsCGG (p.Arg669=) c.1891_1893delinsCGG (p.Arg631=) c.610_612delinsCGG (p.Arg204=) c.54_56delinsCGG c.318_320delinsCGG n.167_169delinsCGG c.1951_1953delinsCGG (p.Arg651=) c.1252_1254delinsCGG (p.Arg418=) | |
| 16 | g.3778118C>A | CA394554669 | CREBBP | c.2006G>T (p.Arg669Leu) c.1892G>T (p.Arg631Leu) c.611G>T (p.Arg204Leu) c.55G>T c.319G>T n.168G>T c.1952G>T (p.Arg651Leu) c.1253G>T (p.Arg418Leu) | dbSNP |
| 16 | g.3778118C>G | CA394554671 | CREBBP | c.2006G>C (p.Arg669Pro) c.1892G>C (p.Arg631Pro) c.611G>C (p.Arg204Pro) c.55G>C c.319G>C n.168G>C c.1952G>C (p.Arg651Pro) c.1253G>C (p.Arg418Pro) | dbSNP |
| 16 | g.3778118C>T | CA394554673 | CREBBP | c.2006G>A (p.Arg669Gln) c.1892G>A (p.Arg631Gln) c.611G>A (p.Arg204Gln) c.55G>A c.319G>A n.168G>A c.1952G>A (p.Arg651Gln) c.1253G>A (p.Arg418Gln) | dbSNP gnomAD v4 |
| 16 | g.3778118_3778119delinsA | CA915949098 | CREBBP | c.2005_2006delinsT (p.Arg669Ter) c.1891_1892delinsT (p.Arg631Ter) c.610_611delinsT (p.Arg204Ter) c.54_55delinsT c.318_319delinsT n.167_168delinsT c.1951_1952delinsT (p.Arg651Ter) c.1252_1253delinsT (p.Arg418Ter) | ClinVar dbSNP |
| 16 | g.3778119G>A | CA394554675 | CREBBP | c.2005C>T (p.Arg669Trp) c.1891C>T (p.Arg631Trp) c.610C>T (p.Arg204Trp) c.54C>T c.318C>T n.167C>T c.1951C>T (p.Arg651Trp) c.1252C>T (p.Arg418Trp) | dbSNP |
| 16 | g.3778119G>C | CA394554677 | CREBBP | c.2005C>G (p.Arg669Gly) c.1891C>G (p.Arg631Gly) c.610C>G (p.Arg204Gly) c.54C>G c.318C>G n.167C>G c.1951C>G (p.Arg651Gly) c.1252C>G (p.Arg418Gly) | |
| 16 | g.3778119G= | CA2202958850 | CREBBP | c.2005C= (p.Arg669=) c.1891C= (p.Arg631=) c.610C= (p.Arg204=) c.54C= c.318C= n.167C= c.1951C= (p.Arg651=) c.1252C= (p.Arg418=) | |
| 16 | g.3778119G>T | CA493276317 | CREBBP | c.2005C>A (p.Arg669=) c.1891C>A (p.Arg631=) c.610C>A (p.Arg204=) c.54C>A c.318C>A n.167C>A c.1951C>A (p.Arg651=) c.1252C>A (p.Arg418=) | |
| 16 | g.3778120T>A | CA394554679 | CREBBP | c.2004A>T (p.Lys668Asn) c.1890A>T (p.Lys630Asn) c.609A>T (p.Lys203Asn) c.53A>T c.317A>T n.166A>T c.1950A>T (p.Lys650Asn) c.1251A>T (p.Lys417Asn) | dbSNP |
| 16 | g.3778120T>C | CA493276318 | CREBBP | c.2004A>G (p.Lys668=) c.1890A>G (p.Lys630=) c.609A>G (p.Lys203=) c.53A>G c.317A>G n.166A>G c.1950A>G (p.Lys650=) c.1251A>G (p.Lys417=) | dbSNP |
| 16 | g.3778120T>G | CA394554681 | CREBBP | c.2004A>C (p.Lys668Asn) c.1890A>C (p.Lys630Asn) c.609A>C (p.Lys203Asn) c.53A>C c.317A>C n.166A>C c.1950A>C (p.Lys650Asn) c.1251A>C (p.Lys417Asn) | dbSNP |
| 16 | g.3778124del | CA645596798 | CREBBP | c.2004del (p.Lys668AsnfsTer27) c.1890del (p.Lys630AsnfsTer27) c.609del (p.Lys203AsnfsTer27) c.53del c.317del n.166del c.1950del (p.Lys650AsnfsTer27) c.1251del (p.Lys417AsnfsTer27) | dbSNP COSMIC |
| 16 | g.3778121T>A | CA394554683 | CREBBP | c.2003A>T (p.Lys668Ile) c.1889A>T (p.Lys630Ile) c.608A>T (p.Lys203Ile) c.52A>T c.316A>T n.165A>T c.1949A>T (p.Lys650Ile) c.1250A>T (p.Lys417Ile) | dbSNP |
| 16 | g.3778121T>C | CA394554685 | CREBBP | c.2003A>G (p.Lys668Arg) c.1889A>G (p.Lys630Arg) c.608A>G (p.Lys203Arg) c.52A>G c.316A>G n.165A>G c.1949A>G (p.Lys650Arg) c.1250A>G (p.Lys417Arg) | |
| 16 | g.3778121T>G | CA394554687 | CREBBP | c.2003A>C (p.Lys668Thr) c.1889A>C (p.Lys630Thr) c.608A>C (p.Lys203Thr) c.52A>C c.316A>C n.165A>C c.1949A>C (p.Lys650Thr) c.1250A>C (p.Lys417Thr) | dbSNP |
| 16 | g.3778122T>A | CA394554690 | CREBBP | c.2002A>T (p.Lys668Ter) c.1888A>T (p.Lys630Ter) c.607A>T (p.Lys203Ter) c.51A>T c.315A>T n.164A>T c.1948A>T (p.Lys650Ter) c.1249A>T (p.Lys417Ter) | dbSNP |
| 16 | g.3778122T>C | CA394554692 | CREBBP | c.2002A>G (p.Lys668Glu) c.1888A>G (p.Lys630Glu) c.607A>G (p.Lys203Glu) c.51A>G c.315A>G n.164A>G c.1948A>G (p.Lys650Glu) c.1249A>G (p.Lys417Glu) | |
| 16 | g.3778122T>G | CA394554693 | CREBBP | c.2002A>C (p.Lys668Gln) c.1888A>C (p.Lys630Gln) c.607A>C (p.Lys203Gln) c.51A>C c.315A>C n.164A>C c.1948A>C (p.Lys650Gln) c.1249A>C (p.Lys417Gln) | |
| 16 | g.3778123T>A | CA394554695 | CREBBP | c.2001A>T (p.Glu667Asp) c.1887A>T (p.Glu629Asp) c.606A>T (p.Glu202Asp) c.50A>T c.314A>T n.163A>T c.1947A>T (p.Glu649Asp) c.1248A>T (p.Glu416Asp) | dbSNP |
| 16 | g.3778123T>C | CA493276319 | CREBBP | c.2001A>G (p.Glu667=) c.1887A>G (p.Glu629=) c.606A>G (p.Glu202=) c.50A>G c.314A>G n.163A>G c.1947A>G (p.Glu649=) c.1248A>G (p.Glu416=) | |
| 16 | g.3778123T>G | CA394554696 | CREBBP | c.2001A>C (p.Glu667Asp) c.1887A>C (p.Glu629Asp) c.606A>C (p.Glu202Asp) c.50A>C c.314A>C n.163A>C c.1947A>C (p.Glu649Asp) c.1248A>C (p.Glu416Asp) | |
| 16 | g.3778124T>A | CA394554698 | CREBBP | c.2000A>T (p.Glu667Val) c.1886A>T (p.Glu629Val) c.605A>T (p.Glu202Val) c.49A>T c.313A>T n.162A>T c.1946A>T (p.Glu649Val) c.1247A>T (p.Glu416Val) | |
| 16 | g.3778124T>C | CA394554699 | CREBBP | c.2000A>G (p.Glu667Gly) c.1886A>G (p.Glu629Gly) c.605A>G (p.Glu202Gly) c.49A>G c.313A>G n.162A>G c.1946A>G (p.Glu649Gly) c.1247A>G (p.Glu416Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3778124T>G | CA394554701 | CREBBP | c.2000A>C (p.Glu667Ala) c.1886A>C (p.Glu629Ala) c.605A>C (p.Glu202Ala) c.49A>C c.313A>C n.162A>C c.1946A>C (p.Glu649Ala) c.1247A>C (p.Glu416Ala) | |
| 16 | g.3778124T= | CA2202958853 | CREBBP | c.2000A= (p.Glu667=) c.1886A= (p.Glu629=) c.605A= (p.Glu202=) c.49A= c.313A= n.162A= c.1946A= (p.Glu649=) c.1247A= (p.Glu416=) | |
| 16 | g.3778125C>A | CA394554707 | CREBBP | c.1999G>T (p.Glu667Ter) c.1885G>T (p.Glu629Ter) c.604G>T (p.Glu202Ter) c.48G>T c.312G>T n.161G>T c.1945G>T (p.Glu649Ter) c.1246G>T (p.Glu416Ter) | |
| 16 | g.3778125C>G | CA394554706 | CREBBP | c.1999G>C (p.Glu667Gln) c.1885G>C (p.Glu629Gln) c.604G>C (p.Glu202Gln) c.48G>C c.312G>C n.161G>C c.1945G>C (p.Glu649Gln) c.1246G>C (p.Glu416Gln) | dbSNP |
| 16 | g.3778125C>T | CA394554703 | CREBBP | c.1999G>A (p.Glu667Lys) c.1885G>A (p.Glu629Lys) c.604G>A (p.Glu202Lys) c.48G>A c.312G>A n.161G>A c.1945G>A (p.Glu649Lys) c.1246G>A (p.Glu416Lys) | dbSNP |
| 16 | g.3778126T>A | CA394554709 | CREBBP | c.1998A>T (p.Glu666Asp) c.1884A>T (p.Glu628Asp) c.603A>T (p.Glu201Asp) c.47A>T c.311A>T n.160A>T c.1944A>T (p.Glu648Asp) c.1245A>T (p.Glu415Asp) | dbSNP |
| 16 | g.3778126T>C | CA493276320 | CREBBP | c.1998A>G (p.Glu666=) c.1884A>G (p.Glu628=) c.603A>G (p.Glu201=) c.47A>G c.311A>G n.160A>G c.1944A>G (p.Glu648=) c.1245A>G (p.Glu415=) | dbSNP |
| 16 | g.3778126T>G | CA394554711 | CREBBP | c.1998A>C (p.Glu666Asp) c.1884A>C (p.Glu628Asp) c.603A>C (p.Glu201Asp) c.47A>C c.311A>C n.160A>C c.1944A>C (p.Glu648Asp) c.1245A>C (p.Glu415Asp) | |
| 16 | g.3778127T>A | CA394554719 | CREBBP | c.1997A>T (p.Glu666Val) c.1883A>T (p.Glu628Val) c.602A>T (p.Glu201Val) c.46A>T c.310A>T n.159A>T c.1943A>T (p.Glu648Val) c.1244A>T (p.Glu415Val) | dbSNP |
| 16 | g.3778127T>C | CA394554722 | CREBBP | c.1997A>G (p.Glu666Gly) c.1883A>G (p.Glu628Gly) c.602A>G (p.Glu201Gly) c.46A>G c.310A>G n.159A>G c.1943A>G (p.Glu648Gly) c.1244A>G (p.Glu415Gly) | |
| 16 | g.3778127T>G | CA394554724 | CREBBP | c.1997A>C (p.Glu666Ala) c.1883A>C (p.Glu628Ala) c.602A>C (p.Glu201Ala) c.46A>C c.310A>C n.159A>C c.1943A>C (p.Glu648Ala) c.1244A>C (p.Glu415Ala) | |
| 16 | g.3778128C>A | CA394554727 | CREBBP | c.1996G>T (p.Glu666Ter) c.1882G>T (p.Glu628Ter) c.601G>T (p.Glu201Ter) c.45G>T c.309G>T n.158G>T c.1942G>T (p.Glu648Ter) c.1243G>T (p.Glu415Ter) | dbSNP |
| 16 | g.3778128C>G | CA394554729 | CREBBP | c.1996G>C (p.Glu666Gln) c.1882G>C (p.Glu628Gln) c.601G>C (p.Glu201Gln) c.45G>C c.309G>C n.158G>C c.1942G>C (p.Glu648Gln) c.1243G>C (p.Glu415Gln) | dbSNP COSMIC |
| 16 | g.3778128C>T | CA394554730 | CREBBP | c.1996G>A (p.Glu666Lys) c.1882G>A (p.Glu628Lys) c.601G>A (p.Glu201Lys) c.45G>A c.309G>A n.158G>A c.1942G>A (p.Glu648Lys) c.1243G>A (p.Glu415Lys) | dbSNP |
| 16 | g.3778129T>A | CA493276321 | CREBBP | c.1995A>T (p.Leu665=) c.1881A>T (p.Leu627=) c.600A>T (p.Leu200=) c.44A>T c.308A>T n.157A>T c.1941A>T (p.Leu647=) c.1242A>T (p.Leu414=) | dbSNP |
| 16 | g.3778129T>C | CA276973518 | CREBBP | c.1995A>G (p.Leu665=) c.1881A>G (p.Leu627=) c.600A>G (p.Leu200=) c.44A>G c.308A>G n.157A>G c.1941A>G (p.Leu647=) c.1242A>G (p.Leu414=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3778129T>G | CA493276322 | CREBBP | c.1995A>C (p.Leu665=) c.1881A>C (p.Leu627=) c.600A>C (p.Leu200=) c.44A>C c.308A>C n.157A>C c.1941A>C (p.Leu647=) c.1242A>C (p.Leu414=) | |
| 16 | g.3778129T= | CA2202958856 | CREBBP | c.1995A= (p.Leu665=) c.1881A= (p.Leu627=) c.600A= (p.Leu200=) c.44A= c.308A= n.157A= c.1941A= (p.Leu647=) c.1242A= (p.Leu414=) | |
| 16 | g.3778130A>C | CA394554732 | CREBBP | c.1994T>G (p.Leu665Arg) c.1880T>G (p.Leu627Arg) c.599T>G (p.Leu200Arg) c.43T>G c.307T>G n.156T>G c.1940T>G (p.Leu647Arg) c.1241T>G (p.Leu414Arg) | |
| 16 | g.3778130A>G | CA394554734 | CREBBP | c.1994T>C (p.Leu665Pro) c.1880T>C (p.Leu627Pro) c.599T>C (p.Leu200Pro) c.43T>C c.307T>C n.156T>C c.1940T>C (p.Leu647Pro) c.1241T>C (p.Leu414Pro) | |
| 16 | g.3778130A>T | CA394554735 | CREBBP | c.1994T>A (p.Leu665Gln) c.1880T>A (p.Leu627Gln) c.599T>A (p.Leu200Gln) c.43T>A c.307T>A n.156T>A c.1940T>A (p.Leu647Gln) c.1241T>A (p.Leu414Gln) | dbSNP |
| 16 | g.3778131G>A | CA276973522 | CREBBP | c.1993C>T (p.Leu665=) c.1879C>T (p.Leu627=) c.598C>T (p.Leu200=) c.42C>T c.306C>T n.155C>T c.1939C>T (p.Leu647=) c.1240C>T (p.Leu414=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3778131G>C | CA394554737 | CREBBP | c.1993C>G (p.Leu665Val) c.1879C>G (p.Leu627Val) c.598C>G (p.Leu200Val) c.42C>G c.306C>G n.155C>G c.1939C>G (p.Leu647Val) c.1240C>G (p.Leu414Val) | dbSNP |
| 16 | g.3778131G= | CA2202958858 | CREBBP | c.1993C= (p.Leu665=) c.1879C= (p.Leu627=) c.598C= (p.Leu200=) c.42C= c.306C= n.155C= c.1939C= (p.Leu647=) c.1240C= (p.Leu414=) | |
| 16 | g.3778131G>T | CA394554739 | CREBBP | c.1993C>A (p.Leu665Ile) c.1879C>A (p.Leu627Ile) c.598C>A (p.Leu200Ile) c.42C>A c.306C>A n.155C>A c.1939C>A (p.Leu647Ile) c.1240C>A (p.Leu414Ile) | dbSNP |
| 16 | g.3778132T>A | CA394554743 | CREBBP | c.1992A>T (p.Glu664Asp) c.1878A>T (p.Glu626Asp) c.597A>T (p.Glu199Asp) c.41A>T c.305A>T n.154A>T c.1938A>T (p.Glu646Asp) c.1239A>T (p.Glu413Asp) | dbSNP |
| 16 | g.3778132T>C | CA493276323 | CREBBP | c.1992A>G (p.Glu664=) c.1878A>G (p.Glu626=) c.597A>G (p.Glu199=) c.41A>G c.305A>G n.154A>G c.1938A>G (p.Glu646=) c.1239A>G (p.Glu413=) | dbSNP |
| 16 | g.3778132T>G | CA394554741 | CREBBP | c.1992A>C (p.Glu664Asp) c.1878A>C (p.Glu626Asp) c.597A>C (p.Glu199Asp) c.41A>C c.305A>C n.154A>C c.1938A>C (p.Glu646Asp) c.1239A>C (p.Glu413Asp) | |
| 16 | g.3778133T>A | CA394554746 | CREBBP | c.1991A>T (p.Glu664Val) c.1877A>T (p.Glu626Val) c.596A>T (p.Glu199Val) c.40A>T c.304A>T n.153A>T c.1937A>T (p.Glu646Val) c.1238A>T (p.Glu413Val) | dbSNP |
| 16 | g.3778133T>C | CA394554749 | CREBBP | c.1991A>G (p.Glu664Gly) c.1877A>G (p.Glu626Gly) c.596A>G (p.Glu199Gly) c.40A>G c.304A>G n.153A>G c.1937A>G (p.Glu646Gly) c.1238A>G (p.Glu413Gly) | |
| 16 | g.3778133T>G | CA394554747 | CREBBP | c.1991A>C (p.Glu664Ala) c.1877A>C (p.Glu626Ala) c.596A>C (p.Glu199Ala) c.40A>C c.304A>C n.153A>C c.1937A>C (p.Glu646Ala) c.1238A>C (p.Glu413Ala) | |
| 16 | g.3778134C>A | CA394554751 | CREBBP | c.1990G>T (p.Glu664Ter) c.1876G>T (p.Glu626Ter) c.595G>T (p.Glu199Ter) c.39G>T c.303G>T n.152G>T c.1936G>T (p.Glu646Ter) c.1237G>T (p.Glu413Ter) | COSMIC |
| 16 | g.3778134C= | CA2202958860 | CREBBP | c.1990G= (p.Glu664=) c.1876G= (p.Glu626=) c.595G= (p.Glu199=) c.39G= c.303G= n.152G= c.1936G= (p.Glu646=) c.1237G= (p.Glu413=) | |
| 16 | g.3778134C>G | CA394554753 | CREBBP | c.1990G>C (p.Glu664Gln) c.1876G>C (p.Glu626Gln) c.595G>C (p.Glu199Gln) c.39G>C c.303G>C n.152G>C c.1936G>C (p.Glu646Gln) c.1237G>C (p.Glu413Gln) | |
| 16 | g.3778134C>T | CA394554755 | CREBBP | c.1990G>A (p.Glu664Lys) c.1876G>A (p.Glu626Lys) c.595G>A (p.Glu199Lys) c.39G>A c.303G>A n.152G>A c.1936G>A (p.Glu646Lys) c.1237G>A (p.Glu413Lys) | dbSNP |
| 16 | g.3778135T>A | CA394554758 | CREBBP | c.1989A>T (p.Lys663Asn) c.1875A>T (p.Lys625Asn) c.594A>T (p.Lys198Asn) c.38A>T c.302A>T n.151A>T c.1935A>T (p.Lys645Asn) c.1236A>T (p.Lys412Asn) | dbSNP |
| 16 | g.3778135T>C | CA493276324 | CREBBP | c.1989A>G (p.Lys663=) c.1875A>G (p.Lys625=) c.594A>G (p.Lys198=) c.38A>G c.302A>G n.151A>G c.1935A>G (p.Lys645=) c.1236A>G (p.Lys412=) | dbSNP |
| 16 | g.3778135T>G | CA394554760 | CREBBP | c.1989A>C (p.Lys663Asn) c.1875A>C (p.Lys625Asn) c.594A>C (p.Lys198Asn) c.38A>C c.302A>C n.151A>C c.1935A>C (p.Lys645Asn) c.1236A>C (p.Lys412Asn) | |
| 16 | g.3778136T>A | CA394554762 | CREBBP | c.1988A>T (p.Lys663Ile) c.1874A>T (p.Lys625Ile) c.593A>T (p.Lys198Ile) c.37A>T c.301A>T n.150A>T c.1934A>T (p.Lys645Ile) c.1235A>T (p.Lys412Ile) | dbSNP |
| 16 | g.3778136T>C | CA394554763 | CREBBP | c.1988A>G (p.Lys663Arg) c.1874A>G (p.Lys625Arg) c.593A>G (p.Lys198Arg) c.37A>G c.301A>G n.150A>G c.1934A>G (p.Lys645Arg) c.1235A>G (p.Lys412Arg) | |
| 16 | g.3778136T>G | CA394554764 | CREBBP | c.1988A>C (p.Lys663Thr) c.1874A>C (p.Lys625Thr) c.593A>C (p.Lys198Thr) c.37A>C c.301A>C n.150A>C c.1934A>C (p.Lys645Thr) c.1235A>C (p.Lys412Thr) | |
| 16 | g.3778137T>A | CA394554767 | CREBBP | c.1987A>T (p.Lys663Ter) c.1873A>T (p.Lys625Ter) c.592A>T (p.Lys198Ter) c.36A>T c.300A>T n.149A>T c.1933A>T (p.Lys645Ter) c.1234A>T (p.Lys412Ter) | |
| 16 | g.3778137T>C | CA394554769 | CREBBP | c.1987A>G (p.Lys663Glu) c.1873A>G (p.Lys625Glu) c.592A>G (p.Lys198Glu) c.36A>G c.300A>G n.149A>G c.1933A>G (p.Lys645Glu) c.1234A>G (p.Lys412Glu) | |
| 16 | g.3778137T>G | CA394554770 | CREBBP | c.1987A>C (p.Lys663Gln) c.1873A>C (p.Lys625Gln) c.592A>C (p.Lys198Gln) c.36A>C c.300A>C n.149A>C c.1933A>C (p.Lys645Gln) c.1234A>C (p.Lys412Gln) | |
| 16 | g.3778138T>A | CA394554773 | CREBBP | c.1986A>T (p.Gln662His) c.1872A>T (p.Gln624His) c.591A>T (p.Gln197His) c.35A>T c.299A>T n.148A>T c.1932A>T (p.Gln644His) c.1233A>T (p.Gln411His) | |
| 16 | g.3778138T>C | CA493276325 | CREBBP | c.1986A>G (p.Gln662=) c.1872A>G (p.Gln624=) c.591A>G (p.Gln197=) c.35A>G c.299A>G n.148A>G c.1932A>G (p.Gln644=) c.1233A>G (p.Gln411=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3778138T>G | CA394554775 | CREBBP | c.1986A>C (p.Gln662His) c.1872A>C (p.Gln624His) c.591A>C (p.Gln197His) c.35A>C c.299A>C n.148A>C c.1932A>C (p.Gln644His) c.1233A>C (p.Gln411His) | |
| 16 | g.3778138T= | CA2202958862 | CREBBP | c.1986A= (p.Gln662=) c.1872A= (p.Gln624=) c.591A= (p.Gln197=) c.35A= c.299A= n.148A= c.1932A= (p.Gln644=) c.1233A= (p.Gln411=) | |
| 16 | g.3778139T>A | CA394554776 | CREBBP | c.1985A>T (p.Gln662Leu) c.1871A>T (p.Gln624Leu) c.590A>T (p.Gln197Leu) c.34A>T c.298A>T n.147A>T c.1931A>T (p.Gln644Leu) c.1232A>T (p.Gln411Leu) | |
| 16 | g.3778139T>C | CA394554778 | CREBBP | c.1985A>G (p.Gln662Arg) c.1871A>G (p.Gln624Arg) c.590A>G (p.Gln197Arg) c.34A>G c.298A>G n.147A>G c.1931A>G (p.Gln644Arg) c.1232A>G (p.Gln411Arg) | |
| 16 | g.3778139T>G | CA394554777 | CREBBP | c.1985A>C (p.Gln662Pro) c.1871A>C (p.Gln624Pro) c.590A>C (p.Gln197Pro) c.34A>C c.298A>C n.147A>C c.1931A>C (p.Gln644Pro) c.1232A>C (p.Gln411Pro) | |
| 16 | g.3778140G>A | CA394554780 | CREBBP | c.1984C>T (p.Gln662Ter) c.1870C>T (p.Gln624Ter) c.589C>T (p.Gln197Ter) c.33C>T c.297C>T n.146C>T c.1930C>T (p.Gln644Ter) c.1231C>T (p.Gln411Ter) | dbSNP |
| 16 | g.3778140G>C | CA394554781 | CREBBP | c.1984C>G (p.Gln662Glu) c.1870C>G (p.Gln624Glu) c.589C>G (p.Gln197Glu) c.33C>G c.297C>G n.146C>G c.1930C>G (p.Gln644Glu) c.1231C>G (p.Gln411Glu) | dbSNP |
| 16 | g.3778140G>T | CA394554782 | CREBBP | c.1984C>A (p.Gln662Lys) c.1870C>A (p.Gln624Lys) c.589C>A (p.Gln197Lys) c.33C>A c.297C>A n.146C>A c.1930C>A (p.Gln644Lys) c.1231C>A (p.Gln411Lys) | ClinVar dbSNP |