| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3777647_3777649delinsCAG | CA2202958204 | CREBBP | c.2122_2124delinsCTG (p.Leu708=) c.2008_2010delinsCTG (p.Leu670=) c.727_729delinsCTG (p.Leu243=) c.171_173delinsCTG c.426+362_426+364delinsCTG c.2113+362_2113+364delinsCTG (n.2113+362_2113+364delinsCTG) c.2068_2070delinsCTG (p.Leu690=) c.1369_1371delinsCTG (p.Leu457=) | |
| 16 | g.3777648A>C | CA394554123 | CREBBP | c.2123T>G (p.Leu708Arg) c.2009T>G (p.Leu670Arg) c.728T>G (p.Leu243Arg) c.172T>G c.426+363T>G c.2113+363T>G (n.2113+363T>G) c.2069T>G (p.Leu690Arg) c.1370T>G (p.Leu457Arg) | |
| 16 | g.3777648A>G | CA394554125 | CREBBP | c.2123T>C (p.Leu708Pro) c.2009T>C (p.Leu670Pro) c.728T>C (p.Leu243Pro) c.172T>C c.426+363T>C c.2113+363T>C (n.2113+363T>C) c.2069T>C (p.Leu690Pro) c.1370T>C (p.Leu457Pro) | gnomAD v4 |
| 16 | g.3777648A>T | CA394554127 | CREBBP | c.2123T>A (p.Leu708Gln) c.2009T>A (p.Leu670Gln) c.728T>A (p.Leu243Gln) c.172T>A c.426+363T>A c.2113+363T>A (n.2113+363T>A) c.2069T>A (p.Leu690Gln) c.1370T>A (p.Leu457Gln) | |
| 16 | g.3777648_3777649del | CA271371 | CREBBP | c.2122_2123del (p.Leu708ValfsTer17) c.2008_2009del (p.Leu670ValfsTer17) c.727_728del (p.Leu243ValfsTer17) c.171_172del c.426+362_426+363del c.2113+362_2113+363del (n.2113+362_2113+363del) c.2068_2069del (p.Leu690ValfsTer17) c.1369_1370del (p.Leu457ValfsTer17) | ClinVar dbSNP |
| 16 | g.3777649G>A | CA493276019 | CREBBP | c.2122C>T (p.Leu708=) c.2008C>T (p.Leu670=) c.727C>T (p.Leu243=) c.171C>T c.426+362C>T c.2113+362C>T (n.2113+362C>T) c.2068C>T (p.Leu690=) c.1369C>T (p.Leu457=) | COSMIC |
| 16 | g.3777649G>C | CA394554129 | CREBBP | c.2122C>G (p.Leu708Val) c.2008C>G (p.Leu670Val) c.727C>G (p.Leu243Val) c.171C>G c.426+362C>G c.2113+362C>G (n.2113+362C>G) c.2068C>G (p.Leu690Val) c.1369C>G (p.Leu457Val) | gnomAD v4 |
| 16 | g.3777649G= | CA2202958214 | CREBBP | c.2122C= (p.Leu708=) c.2008C= (p.Leu670=) c.727C= (p.Leu243=) c.171C= c.426+362C= c.2113+362C= (n.2113+362C=) c.2068C= (p.Leu690=) c.1369C= (p.Leu457=) | |
| 16 | g.3777649G>T | CA394554130 | CREBBP | c.2122C>A (p.Leu708Met) c.2008C>A (p.Leu670Met) c.727C>A (p.Leu243Met) c.171C>A c.426+362C>A c.2113+362C>A (n.2113+362C>A) c.2068C>A (p.Leu690Met) c.1369C>A (p.Leu457Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3777650G>A | CA493276024 | CREBBP | c.2121C>T (p.Pro707=) c.2007C>T (p.Pro669=) c.726C>T (p.Pro242=) c.170C>T c.426+361C>T c.2113+361C>T (n.2113+361C>T) c.2067C>T (p.Pro689=) c.1368C>T (p.Pro456=) | dbSNP |
| 16 | g.3777650G>C | CA493276025 | CREBBP | c.2121C>G (p.Pro707=) c.2007C>G (p.Pro669=) c.726C>G (p.Pro242=) c.170C>G c.426+361C>G c.2113+361C>G (n.2113+361C>G) c.2067C>G (p.Pro689=) c.1368C>G (p.Pro456=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3777650G= | CA2202958218 | CREBBP | c.2121C= (p.Pro707=) c.2007C= (p.Pro669=) c.726C= (p.Pro242=) c.170C= c.426+361C= c.2113+361C= (n.2113+361C=) c.2067C= (p.Pro689=) c.1368C= (p.Pro456=) | |
| 16 | g.3777650G>T | CA493276026 | CREBBP | c.2121C>A (p.Pro707=) c.2007C>A (p.Pro669=) c.726C>A (p.Pro242=) c.170C>A c.426+361C>A c.2113+361C>A (n.2113+361C>A) c.2067C>A (p.Pro689=) c.1368C>A (p.Pro456=) | |
| 16 | g.3777651G>A | CA394554132 | CREBBP | c.2120C>T (p.Pro707Leu) c.2006C>T (p.Pro669Leu) c.725C>T (p.Pro242Leu) c.169C>T c.426+360C>T c.2113+360C>T (n.2113+360C>T) c.2066C>T (p.Pro689Leu) c.1367C>T (p.Pro456Leu) | gnomAD v4 |
| 16 | g.3777651G>C | CA394554134 | CREBBP | c.2120C>G (p.Pro707Arg) c.2006C>G (p.Pro669Arg) c.725C>G (p.Pro242Arg) c.169C>G c.426+360C>G c.2113+360C>G (n.2113+360C>G) c.2066C>G (p.Pro689Arg) c.1367C>G (p.Pro456Arg) | |
| 16 | g.3777651G>T | CA394554135 | CREBBP | c.2120C>A (p.Pro707His) c.2006C>A (p.Pro669His) c.725C>A (p.Pro242His) c.169C>A c.426+360C>A c.2113+360C>A (n.2113+360C>A) c.2066C>A (p.Pro689His) c.1367C>A (p.Pro456His) | |
| 16 | g.3777652G>A | CA394554141 | CREBBP | c.2119C>T (p.Pro707Ser) c.2005C>T (p.Pro669Ser) c.724C>T (p.Pro242Ser) c.168C>T c.426+359C>T c.2113+359C>T (n.2113+359C>T) c.2065C>T (p.Pro689Ser) c.1366C>T (p.Pro456Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3777652G>C | CA394554140 | CREBBP | c.2119C>G (p.Pro707Ala) c.2005C>G (p.Pro669Ala) c.724C>G (p.Pro242Ala) c.168C>G c.426+359C>G c.2113+359C>G (n.2113+359C>G) c.2065C>G (p.Pro689Ala) c.1366C>G (p.Pro456Ala) | ClinVar |
| 16 | g.3777652G= | CA2202958220 | CREBBP | c.2119C= (p.Pro707=) c.2005C= (p.Pro669=) c.724C= (p.Pro242=) c.168C= c.426+359C= c.2113+359C= (n.2113+359C=) c.2065C= (p.Pro689=) c.1366C= (p.Pro456=) | |
| 16 | g.3777652G>T | CA394554138 | CREBBP | c.2119C>A (p.Pro707Thr) c.2005C>A (p.Pro669Thr) c.724C>A (p.Pro242Thr) c.168C>A c.426+359C>A c.2113+359C>A (n.2113+359C>A) c.2065C>A (p.Pro689Thr) c.1366C>A (p.Pro456Thr) | |
| 16 | g.3777653T>A | CA493276039 | CREBBP | c.2118A>T (p.Gly706=) c.2004A>T (p.Gly668=) c.723A>T (p.Gly241=) c.167A>T c.426+358A>T c.2113+358A>T (n.2113+358A>T) c.2064A>T (p.Gly688=) c.1365A>T (p.Gly455=) | |
| 16 | g.3777653T>C | CA7870254 | CREBBP | c.2118A>G (p.Gly706=) c.2004A>G (p.Gly668=) c.723A>G (p.Gly241=) c.167A>G c.426+358A>G c.2113+358A>G (n.2113+358A>G) c.2064A>G (p.Gly688=) c.1365A>G (p.Gly455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3777653T>G | CA493276042 | CREBBP | c.2118A>C (p.Gly706=) c.2004A>C (p.Gly668=) c.723A>C (p.Gly241=) c.167A>C c.426+358A>C c.2113+358A>C (n.2113+358A>C) c.2064A>C (p.Gly688=) c.1365A>C (p.Gly455=) | dbSNP |
| 16 | g.3777653T= | CA2202958223 | CREBBP | c.2118A= (p.Gly706=) c.2004A= (p.Gly668=) c.723A= (p.Gly241=) c.167A= c.426+358A= c.2113+358A= (n.2113+358A=) c.2064A= (p.Gly688=) c.1365A= (p.Gly455=) | |
| 16 | g.3777654C>A | CA394554145 | CREBBP | c.2117G>T (p.Gly706Val) c.2003G>T (p.Gly668Val) c.722G>T (p.Gly241Val) c.166G>T c.426+357G>T c.2113+357G>T (n.2113+357G>T) c.2063G>T (p.Gly688Val) c.1364G>T (p.Gly455Val) | |
| 16 | g.3777654C>G | CA394554147 | CREBBP | c.2117G>C (p.Gly706Ala) c.2003G>C (p.Gly668Ala) c.722G>C (p.Gly241Ala) c.166G>C c.426+357G>C c.2113+357G>C (n.2113+357G>C) c.2063G>C (p.Gly688Ala) c.1364G>C (p.Gly455Ala) | gnomAD v4 |
| 16 | g.3777654C>T | CA394554149 | CREBBP | c.2117G>A (p.Gly706Glu) c.2003G>A (p.Gly668Glu) c.722G>A (p.Gly241Glu) c.166G>A c.426+357G>A c.2113+357G>A (n.2113+357G>A) c.2063G>A (p.Gly688Glu) c.1364G>A (p.Gly455Glu) | |
| 16 | g.3777655C>A | CA394554151 | CREBBP | c.2116G>T (p.Gly706Ter) c.2002G>T (p.Gly668Ter) c.721G>T (p.Gly241Ter) c.165G>T c.426+356G>T c.2113+356G>T (n.2113+356G>T) c.2062G>T (p.Gly688Ter) c.1363G>T (p.Gly455Ter) | |
| 16 | g.3777655C>G | CA394554153 | CREBBP | c.2116G>C (p.Gly706Arg) c.2002G>C (p.Gly668Arg) c.721G>C (p.Gly241Arg) c.165G>C c.426+356G>C c.2113+356G>C (n.2113+356G>C) c.2062G>C (p.Gly688Arg) c.1363G>C (p.Gly455Arg) | |
| 16 | g.3777655C>T | CA394554155 | CREBBP | c.2116G>A (p.Gly706Arg) c.2002G>A (p.Gly668Arg) c.721G>A (p.Gly241Arg) c.165G>A c.426+356G>A c.2113+356G>A (n.2113+356G>A) c.2062G>A (p.Gly688Arg) c.1363G>A (p.Gly455Arg) | |
| 16 | g.3777656A= | CA2202958227 | CREBBP | c.2115T= (p.Asn705=) c.2001T= (p.Asn667=) c.720T= (p.Asn240=) c.164T= c.426+355T= c.2113+355T= (n.2113+355T=) c.2061T= (p.Asn687=) c.1362T= (p.Asn454=) | |
| 16 | g.3777656A>C | CA394554156 | CREBBP | c.2115T>G (p.Asn705Lys) c.2001T>G (p.Asn667Lys) c.720T>G (p.Asn240Lys) c.164T>G c.426+355T>G c.2113+355T>G (n.2113+355T>G) c.2061T>G (p.Asn687Lys) c.1362T>G (p.Asn454Lys) | dbSNP |
| 16 | g.3777656A>G | CA493276050 | CREBBP | c.2115T>C (p.Asn705=) c.2001T>C (p.Asn667=) c.720T>C (p.Asn240=) c.164T>C c.426+355T>C c.2113+355T>C (n.2113+355T>C) c.2061T>C (p.Asn687=) c.1362T>C (p.Asn454=) | |
| 16 | g.3777656A>T | CA394554158 | CREBBP | c.2115T>A (p.Asn705Lys) c.2001T>A (p.Asn667Lys) c.720T>A (p.Asn240Lys) c.164T>A c.426+355T>A c.2113+355T>A (n.2113+355T>A) c.2061T>A (p.Asn687Lys) c.1362T>A (p.Asn454Lys) | |
| 16 | g.3777657T>A | CA394554160 | CREBBP | c.2114A>T (p.Asn705Ile) c.2000A>T (p.Asn667Ile) c.719A>T (p.Asn240Ile) c.163A>T c.426+354A>T c.2113+354A>T (n.2113+354A>T) c.2060A>T (p.Asn687Ile) c.1361A>T (p.Asn454Ile) | ClinVar |
| 16 | g.3777657T>C | CA394554161 | CREBBP | c.2114A>G (p.Asn705Ser) c.2000A>G (p.Asn667Ser) c.719A>G (p.Asn240Ser) c.163A>G c.426+354A>G c.2113+354A>G (n.2113+354A>G) c.2060A>G (p.Asn687Ser) c.1361A>G (p.Asn454Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3777657T>G | CA394554162 | CREBBP | c.2114A>C (p.Asn705Thr) c.2000A>C (p.Asn667Thr) c.719A>C (p.Asn240Thr) c.163A>C c.426+354A>C c.2113+354A>C (n.2113+354A>C) c.2060A>C (p.Asn687Thr) c.1361A>C (p.Asn454Thr) | |
| 16 | g.3777657T= | CA2202958232 | CREBBP | c.2114A= (p.Asn705=) c.2000A= (p.Asn667=) c.719A= (p.Asn240=) c.163A= c.426+354A= c.2113+354A= (n.2113+354A=) c.2060A= (p.Asn687=) c.1361A= (p.Asn454=) | |
| 16 | g.3777658C>A | CA394554168 | CREBBP | c.2114-1G>T (n.2114-1G>T) c.2000-1G>T (n.2000-1G>T) c.719-1G>T (n.719-1G>T) c.163-1G>T c.426+353G>T c.2113+353G>T (n.2113+353G>T) c.2060-1G>T (n.2060-1G>T) c.1361-1G>T (n.1361-1G>T) | |
| 16 | g.3777658C>G | CA394554167 | CREBBP | c.2114-1G>C (n.2114-1G>C) c.2000-1G>C (n.2000-1G>C) c.719-1G>C (n.719-1G>C) c.163-1G>C c.426+353G>C c.2113+353G>C (n.2113+353G>C) c.2060-1G>C (n.2060-1G>C) c.1361-1G>C (n.1361-1G>C) | |
| 16 | g.3777658C>T | CA394554165 | CREBBP | c.2114-1G>A (n.2114-1G>A) c.2000-1G>A (n.2000-1G>A) c.719-1G>A (n.719-1G>A) c.163-1G>A c.426+353G>A c.2113+353G>A (n.2113+353G>A) c.2060-1G>A (n.2060-1G>A) c.1361-1G>A (n.1361-1G>A) | |
| 16 | g.3777659T>A | CA394554171 | CREBBP | c.2114-2A>T (n.2114-2A>T) c.2000-2A>T (n.2000-2A>T) c.719-2A>T (n.719-2A>T) c.163-2A>T c.426+352A>T c.2113+352A>T (n.2113+352A>T) c.2060-2A>T (n.2060-2A>T) c.1361-2A>T (n.1361-2A>T) | |
| 16 | g.3777659T>C | CA394554173 | CREBBP | c.2114-2A>G (n.2114-2A>G) c.2000-2A>G (n.2000-2A>G) c.719-2A>G (n.719-2A>G) c.163-2A>G c.426+352A>G c.2113+352A>G (n.2113+352A>G) c.2060-2A>G (n.2060-2A>G) c.1361-2A>G (n.1361-2A>G) | |
| 16 | g.3777659T>G | CA394554174 | CREBBP | c.2114-2A>C (n.2114-2A>C) c.2000-2A>C (n.2000-2A>C) c.719-2A>C (n.719-2A>C) c.163-2A>C c.426+352A>C c.2113+352A>C (n.2113+352A>C) c.2060-2A>C (n.2060-2A>C) c.1361-2A>C (n.1361-2A>C) | |
| 16 | g.3777660A= | CA2202958236 | CREBBP | c.2114-3T= (n.2114-3T=) c.2000-3T= (n.2000-3T=) c.719-3T= (n.719-3T=) c.163-3T= c.426+351T= c.2113+351T= (n.2113+351T=) c.2060-3T= (n.2060-3T=) c.1361-3T= (n.1361-3T=) | |
| 16 | g.3777660A>G | CA276973074 | CREBBP | c.2114-3T>C (n.2114-3T>C) c.2000-3T>C (n.2000-3T>C) c.719-3T>C (n.719-3T>C) c.163-3T>C c.426+351T>C c.2113+351T>C (n.2113+351T>C) c.2060-3T>C (n.2060-3T>C) c.1361-3T>C (n.1361-3T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3777661T>C | CA7870255 | CREBBP | c.2114-4A>G (n.2114-4A>G) c.2000-4A>G (n.2000-4A>G) c.719-4A>G (n.719-4A>G) c.163-4A>G c.426+350A>G c.2113+350A>G (n.2113+350A>G) c.2060-4A>G (n.2060-4A>G) c.1361-4A>G (n.1361-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3777661T= | CA2202958239 | CREBBP | c.2114-4A= (n.2114-4A=) c.2000-4A= (n.2000-4A=) c.719-4A= (n.719-4A=) c.163-4A= c.426+350A= c.2113+350A= (n.2113+350A=) c.2060-4A= (n.2060-4A=) c.1361-4A= (n.1361-4A=) | |
| 16 | g.3777662G>A | CA973913405 | CREBBP | c.2114-5C>T (n.2114-5C>T) c.2000-5C>T (n.2000-5C>T) c.719-5C>T (n.719-5C>T) c.163-5C>T c.426+349C>T c.2113+349C>T (n.2113+349C>T) c.2060-5C>T (n.2060-5C>T) c.1361-5C>T (n.1361-5C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3777662G= | CA2202958242 | CREBBP | c.2114-5C= (n.2114-5C=) c.2000-5C= (n.2000-5C=) c.719-5C= (n.719-5C=) c.163-5C= c.426+349C= c.2113+349C= (n.2113+349C=) c.2060-5C= (n.2060-5C=) c.1361-5C= (n.1361-5C=) |