Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3729093C>A | CA394554844 | CREBBP | c.5954G>T (p.Arg1985Leu) c.5840G>T (p.Arg1947Leu) c.5909G>T (p.Arg1970Leu) c.5537G>T (p.Arg1846Leu) c.5693G>T (p.Arg1898Leu) c.5900G>T (p.Arg1967Leu) c.5201G>T (p.Arg1734Leu) c.5948G>T (p.Arg1983Leu) | dbSNP gnomAD v4 |
16 | g.3729093C= | CA2202916216 | CREBBP | c.5954G= (p.Arg1985=) c.5840G= (p.Arg1947=) c.5909G= (p.Arg1970=) c.5537G= (p.Arg1846=) c.5693G= (p.Arg1898=) c.5900G= (p.Arg1967=) c.5201G= (p.Arg1734=) c.5948G= (p.Arg1983=) | |
16 | g.3729093C>G | CA394554845 | CREBBP | c.5954G>C (p.Arg1985Pro) c.5840G>C (p.Arg1947Pro) c.5909G>C (p.Arg1970Pro) c.5537G>C (p.Arg1846Pro) c.5693G>C (p.Arg1898Pro) c.5900G>C (p.Arg1967Pro) c.5201G>C (p.Arg1734Pro) c.5948G>C (p.Arg1983Pro) | |
16 | g.3729093C>T | CA394554847 | CREBBP | c.5954G>A (p.Arg1985His) c.5840G>A (p.Arg1947His) c.5909G>A (p.Arg1970His) c.5537G>A (p.Arg1846His) c.5693G>A (p.Arg1898His) c.5900G>A (p.Arg1967His) c.5201G>A (p.Arg1734His) c.5948G>A (p.Arg1983His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729094G>A | CA7869215 | CREBBP | c.5953C>T (p.Arg1985Cys) c.5839C>T (p.Arg1947Cys) c.5908C>T (p.Arg1970Cys) c.5536C>T (p.Arg1846Cys) c.5692C>T (p.Arg1898Cys) c.5899C>T (p.Arg1967Cys) c.5200C>T (p.Arg1734Cys) c.5947C>T (p.Arg1983Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729094G>C | CA394554851 | CREBBP | c.5953C>G (p.Arg1985Gly) c.5839C>G (p.Arg1947Gly) c.5908C>G (p.Arg1970Gly) c.5536C>G (p.Arg1846Gly) c.5692C>G (p.Arg1898Gly) c.5899C>G (p.Arg1967Gly) c.5200C>G (p.Arg1734Gly) c.5947C>G (p.Arg1983Gly) | dbSNP |
16 | g.3729094G= | CA2202916217 | CREBBP | c.5953C= (p.Arg1985=) c.5839C= (p.Arg1947=) c.5908C= (p.Arg1970=) c.5536C= (p.Arg1846=) c.5692C= (p.Arg1898=) c.5899C= (p.Arg1967=) c.5200C= (p.Arg1734=) c.5947C= (p.Arg1983=) | |
16 | g.3729094G>T | CA394554848 | CREBBP | c.5953C>A (p.Arg1985Ser) c.5839C>A (p.Arg1947Ser) c.5908C>A (p.Arg1970Ser) c.5536C>A (p.Arg1846Ser) c.5692C>A (p.Arg1898Ser) c.5899C>A (p.Arg1967Ser) c.5200C>A (p.Arg1734Ser) c.5947C>A (p.Arg1983Ser) | gnomAD v4 |
16 | g.3729095T>A | CA493394276 | CREBBP | c.5952A>T (p.Gly1984=) c.5838A>T (p.Gly1946=) c.5907A>T (p.Gly1969=) c.5535A>T (p.Gly1845=) c.5691A>T (p.Gly1897=) c.5898A>T (p.Gly1966=) c.5199A>T (p.Gly1733=) c.5946A>T (p.Gly1982=) | dbSNP gnomAD v4 |
16 | g.3729095T>C | CA493394277 | CREBBP | c.5952A>G (p.Gly1984=) c.5838A>G (p.Gly1946=) c.5907A>G (p.Gly1969=) c.5535A>G (p.Gly1845=) c.5691A>G (p.Gly1897=) c.5898A>G (p.Gly1966=) c.5199A>G (p.Gly1733=) c.5946A>G (p.Gly1982=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729095T>G | CA493394280 | CREBBP | c.5952A>C (p.Gly1984=) c.5838A>C (p.Gly1946=) c.5907A>C (p.Gly1969=) c.5535A>C (p.Gly1845=) c.5691A>C (p.Gly1897=) c.5898A>C (p.Gly1966=) c.5199A>C (p.Gly1733=) c.5946A>C (p.Gly1982=) | dbSNP |
16 | g.3729095T= | CA2202916218 | CREBBP | c.5952A= (p.Gly1984=) c.5838A= (p.Gly1946=) c.5907A= (p.Gly1969=) c.5535A= (p.Gly1845=) c.5691A= (p.Gly1897=) c.5898A= (p.Gly1966=) c.5199A= (p.Gly1733=) c.5946A= (p.Gly1982=) | |
16 | g.3729096C>A | CA394554852 | CREBBP | c.5951G>T (p.Gly1984Val) c.5837G>T (p.Gly1946Val) c.5906G>T (p.Gly1969Val) c.5534G>T (p.Gly1845Val) c.5690G>T (p.Gly1897Val) c.5897G>T (p.Gly1966Val) c.5198G>T (p.Gly1733Val) c.5945G>T (p.Gly1982Val) | gnomAD v4 |
16 | g.3729096C>G | CA394554854 | CREBBP | c.5951G>C (p.Gly1984Ala) c.5837G>C (p.Gly1946Ala) c.5906G>C (p.Gly1969Ala) c.5534G>C (p.Gly1845Ala) c.5690G>C (p.Gly1897Ala) c.5897G>C (p.Gly1966Ala) c.5198G>C (p.Gly1733Ala) c.5945G>C (p.Gly1982Ala) | dbSNP |
16 | g.3729096C>T | CA394554856 | CREBBP | c.5951G>A (p.Gly1984Glu) c.5837G>A (p.Gly1946Glu) c.5906G>A (p.Gly1969Glu) c.5534G>A (p.Gly1845Glu) c.5690G>A (p.Gly1897Glu) c.5897G>A (p.Gly1966Glu) c.5198G>A (p.Gly1733Glu) c.5945G>A (p.Gly1982Glu) | dbSNP |
16 | g.3729097C>A | CA394554858 | CREBBP | c.5950G>T (p.Gly1984Ter) c.5836G>T (p.Gly1946Ter) c.5905G>T (p.Gly1969Ter) c.5533G>T (p.Gly1845Ter) c.5689G>T (p.Gly1897Ter) c.5896G>T (p.Gly1966Ter) c.5197G>T (p.Gly1733Ter) c.5944G>T (p.Gly1982Ter) | dbSNP gnomAD v4 |
16 | g.3729097C>G | CA394554860 | CREBBP | c.5950G>C (p.Gly1984Arg) c.5836G>C (p.Gly1946Arg) c.5905G>C (p.Gly1969Arg) c.5533G>C (p.Gly1845Arg) c.5689G>C (p.Gly1897Arg) c.5896G>C (p.Gly1966Arg) c.5197G>C (p.Gly1733Arg) c.5944G>C (p.Gly1982Arg) | dbSNP |
16 | g.3729097C>T | CA394554862 | CREBBP | c.5950G>A (p.Gly1984Arg) c.5836G>A (p.Gly1946Arg) c.5905G>A (p.Gly1969Arg) c.5533G>A (p.Gly1845Arg) c.5689G>A (p.Gly1897Arg) c.5896G>A (p.Gly1966Arg) c.5197G>A (p.Gly1733Arg) c.5944G>A (p.Gly1982Arg) | dbSNP gnomAD v4 |
16 | g.3729098T>A | CA493394281 | CREBBP | c.5949A>T (p.Pro1983=) c.5835A>T (p.Pro1945=) c.5904A>T (p.Pro1968=) c.5532A>T (p.Pro1844=) c.5688A>T (p.Pro1896=) c.5895A>T (p.Pro1965=) c.5196A>T (p.Pro1732=) c.5943A>T (p.Pro1981=) | gnomAD v4 |
16 | g.3729098T>C | CA7869216 | CREBBP | c.5949A>G (p.Pro1983=) c.5835A>G (p.Pro1945=) c.5904A>G (p.Pro1968=) c.5532A>G (p.Pro1844=) c.5688A>G (p.Pro1896=) c.5895A>G (p.Pro1965=) c.5196A>G (p.Pro1732=) c.5943A>G (p.Pro1981=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729098T>G | CA493394282 | CREBBP | c.5949A>C (p.Pro1983=) c.5835A>C (p.Pro1945=) c.5904A>C (p.Pro1968=) c.5532A>C (p.Pro1844=) c.5688A>C (p.Pro1896=) c.5895A>C (p.Pro1965=) c.5196A>C (p.Pro1732=) c.5943A>C (p.Pro1981=) | |
16 | g.3729098T= | CA2202916219 | CREBBP | c.5949A= (p.Pro1983=) c.5835A= (p.Pro1945=) c.5904A= (p.Pro1968=) c.5532A= (p.Pro1844=) c.5688A= (p.Pro1896=) c.5895A= (p.Pro1965=) c.5196A= (p.Pro1732=) c.5943A= (p.Pro1981=) | |
16 | g.3729099G>A | CA394554864 | CREBBP | c.5948C>T (p.Pro1983Leu) c.5834C>T (p.Pro1945Leu) c.5903C>T (p.Pro1968Leu) c.5531C>T (p.Pro1844Leu) c.5687C>T (p.Pro1896Leu) c.5894C>T (p.Pro1965Leu) c.5195C>T (p.Pro1732Leu) c.5942C>T (p.Pro1981Leu) | dbSNP gnomAD v4 |
16 | g.3729099G>C | CA394554866 | CREBBP | c.5948C>G (p.Pro1983Arg) c.5834C>G (p.Pro1945Arg) c.5903C>G (p.Pro1968Arg) c.5531C>G (p.Pro1844Arg) c.5687C>G (p.Pro1896Arg) c.5894C>G (p.Pro1965Arg) c.5195C>G (p.Pro1732Arg) c.5942C>G (p.Pro1981Arg) | |
16 | g.3729099G= | CA2202916220 | CREBBP | c.5948C= (p.Pro1983=) c.5834C= (p.Pro1945=) c.5903C= (p.Pro1968=) c.5531C= (p.Pro1844=) c.5687C= (p.Pro1896=) c.5894C= (p.Pro1965=) c.5195C= (p.Pro1732=) c.5942C= (p.Pro1981=) | |
16 | g.3729099G>T | CA394554868 | CREBBP | c.5948C>A (p.Pro1983Gln) c.5834C>A (p.Pro1945Gln) c.5903C>A (p.Pro1968Gln) c.5531C>A (p.Pro1844Gln) c.5687C>A (p.Pro1896Gln) c.5894C>A (p.Pro1965Gln) c.5195C>A (p.Pro1732Gln) c.5942C>A (p.Pro1981Gln) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729103del | CA2631403461 | CREBBP | c.5948del (p.Pro1983GlnfsTer16) c.5834del (p.Pro1945GlnfsTer16) c.5903del (p.Pro1968GlnfsTer16) c.5531del (p.Pro1844GlnfsTer16) c.5687del (p.Pro1896GlnfsTer16) c.5894del (p.Pro1965GlnfsTer16) c.5195del (p.Pro1732GlnfsTer16) c.5942del (p.Pro1981GlnfsTer16) | gnomAD v4 |
16 | g.3729100G>A | CA394554874 | CREBBP | c.5947C>T (p.Pro1983Ser) c.5833C>T (p.Pro1945Ser) c.5902C>T (p.Pro1968Ser) c.5530C>T (p.Pro1844Ser) c.5686C>T (p.Pro1896Ser) c.5893C>T (p.Pro1965Ser) c.5194C>T (p.Pro1732Ser) c.5941C>T (p.Pro1981Ser) | dbSNP gnomAD v2 |
16 | g.3729100G>C | CA394554872 | CREBBP | c.5947C>G (p.Pro1983Ala) c.5833C>G (p.Pro1945Ala) c.5902C>G (p.Pro1968Ala) c.5530C>G (p.Pro1844Ala) c.5686C>G (p.Pro1896Ala) c.5893C>G (p.Pro1965Ala) c.5194C>G (p.Pro1732Ala) c.5941C>G (p.Pro1981Ala) | dbSNP gnomAD v4 |
16 | g.3729100G= | CA2202916221 | CREBBP | c.5947C= (p.Pro1983=) c.5833C= (p.Pro1945=) c.5902C= (p.Pro1968=) c.5530C= (p.Pro1844=) c.5686C= (p.Pro1896=) c.5893C= (p.Pro1965=) c.5194C= (p.Pro1732=) c.5941C= (p.Pro1981=) | |
16 | g.3729100G>T | CA394554870 | CREBBP | c.5947C>A (p.Pro1983Thr) c.5833C>A (p.Pro1945Thr) c.5902C>A (p.Pro1968Thr) c.5530C>A (p.Pro1844Thr) c.5686C>A (p.Pro1896Thr) c.5893C>A (p.Pro1965Thr) c.5194C>A (p.Pro1732Thr) c.5941C>A (p.Pro1981Thr) | gnomAD v4 |
16 | g.3729101G>A | CA493394287 | CREBBP | c.5946C>T (p.Pro1982=) c.5832C>T (p.Pro1944=) c.5901C>T (p.Pro1967=) c.5529C>T (p.Pro1843=) c.5685C>T (p.Pro1895=) c.5892C>T (p.Pro1964=) c.5193C>T (p.Pro1731=) c.5940C>T (p.Pro1980=) | dbSNP gnomAD v2 |
16 | g.3729101G>C | CA493394290 | CREBBP | c.5946C>G (p.Pro1982=) c.5832C>G (p.Pro1944=) c.5901C>G (p.Pro1967=) c.5529C>G (p.Pro1843=) c.5685C>G (p.Pro1895=) c.5892C>G (p.Pro1964=) c.5193C>G (p.Pro1731=) c.5940C>G (p.Pro1980=) | dbSNP |
16 | g.3729101G= | CA2202916222 | CREBBP | c.5946C= (p.Pro1982=) c.5832C= (p.Pro1944=) c.5901C= (p.Pro1967=) c.5529C= (p.Pro1843=) c.5685C= (p.Pro1895=) c.5892C= (p.Pro1964=) c.5193C= (p.Pro1731=) c.5940C= (p.Pro1980=) | |
16 | g.3729101G>T | CA493394288 | CREBBP | c.5946C>A (p.Pro1982=) c.5832C>A (p.Pro1944=) c.5901C>A (p.Pro1967=) c.5529C>A (p.Pro1843=) c.5685C>A (p.Pro1895=) c.5892C>A (p.Pro1964=) c.5193C>A (p.Pro1731=) c.5940C>A (p.Pro1980=) | gnomAD v4 |
16 | g.3729102G>A | CA394554875 | CREBBP | c.5945C>T (p.Pro1982Leu) c.5831C>T (p.Pro1944Leu) c.5900C>T (p.Pro1967Leu) c.5528C>T (p.Pro1843Leu) c.5684C>T (p.Pro1895Leu) c.5891C>T (p.Pro1964Leu) c.5192C>T (p.Pro1731Leu) c.5939C>T (p.Pro1980Leu) | dbSNP gnomAD v4 |
16 | g.3729102G>C | CA394554877 | CREBBP | c.5945C>G (p.Pro1982Arg) c.5831C>G (p.Pro1944Arg) c.5900C>G (p.Pro1967Arg) c.5528C>G (p.Pro1843Arg) c.5684C>G (p.Pro1895Arg) c.5891C>G (p.Pro1964Arg) c.5192C>G (p.Pro1731Arg) c.5939C>G (p.Pro1980Arg) | gnomAD v4 |
16 | g.3729102G>T | CA394554878 | CREBBP | c.5945C>A (p.Pro1982His) c.5831C>A (p.Pro1944His) c.5900C>A (p.Pro1967His) c.5528C>A (p.Pro1843His) c.5684C>A (p.Pro1895His) c.5891C>A (p.Pro1964His) c.5192C>A (p.Pro1731His) c.5939C>A (p.Pro1980His) | dbSNP gnomAD v4 |
16 | g.3729103G>A | CA7869217 | CREBBP | c.5944C>T (p.Pro1982Ser) c.5830C>T (p.Pro1944Ser) c.5899C>T (p.Pro1967Ser) c.5527C>T (p.Pro1843Ser) c.5683C>T (p.Pro1895Ser) c.5890C>T (p.Pro1964Ser) c.5191C>T (p.Pro1731Ser) c.5938C>T (p.Pro1980Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729103G>C | CA394554880 | CREBBP | c.5944C>G (p.Pro1982Ala) c.5830C>G (p.Pro1944Ala) c.5899C>G (p.Pro1967Ala) c.5527C>G (p.Pro1843Ala) c.5683C>G (p.Pro1895Ala) c.5890C>G (p.Pro1964Ala) c.5191C>G (p.Pro1731Ala) c.5938C>G (p.Pro1980Ala) | dbSNP |
16 | g.3729103G= | CA2202916223 | CREBBP | c.5944C= (p.Pro1982=) c.5830C= (p.Pro1944=) c.5899C= (p.Pro1967=) c.5527C= (p.Pro1843=) c.5683C= (p.Pro1895=) c.5890C= (p.Pro1964=) c.5191C= (p.Pro1731=) c.5938C= (p.Pro1980=) | |
16 | g.3729103G>T | CA394554881 | CREBBP | c.5944C>A (p.Pro1982Thr) c.5830C>A (p.Pro1944Thr) c.5899C>A (p.Pro1967Thr) c.5527C>A (p.Pro1843Thr) c.5683C>A (p.Pro1895Thr) c.5890C>A (p.Pro1964Thr) c.5191C>A (p.Pro1731Thr) c.5938C>A (p.Pro1980Thr) | ClinVar dbSNP gnomAD v4 |
16 | g.3729104C>A | CA394554883 | CREBBP | c.5943G>T (p.Met1981Ile) c.5829G>T (p.Met1943Ile) c.5898G>T (p.Met1966Ile) c.5526G>T (p.Met1842Ile) c.5682G>T (p.Met1894Ile) c.5889G>T (p.Met1963Ile) c.5190G>T (p.Met1730Ile) c.5937G>T (p.Met1979Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729104C= | CA2202916224 | CREBBP | c.5943G= (p.Met1981=) c.5829G= (p.Met1943=) c.5898G= (p.Met1966=) c.5526G= (p.Met1842=) c.5682G= (p.Met1894=) c.5889G= (p.Met1963=) c.5190G= (p.Met1730=) c.5937G= (p.Met1979=) | |
16 | g.3729104C>G | CA394554885 | CREBBP | c.5943G>C (p.Met1981Ile) c.5829G>C (p.Met1943Ile) c.5898G>C (p.Met1966Ile) c.5526G>C (p.Met1842Ile) c.5682G>C (p.Met1894Ile) c.5889G>C (p.Met1963Ile) c.5190G>C (p.Met1730Ile) c.5937G>C (p.Met1979Ile) | dbSNP |
16 | g.3729104C>T | CA394554887 | CREBBP | c.5943G>A (p.Met1981Ile) c.5829G>A (p.Met1943Ile) c.5898G>A (p.Met1966Ile) c.5526G>A (p.Met1842Ile) c.5682G>A (p.Met1894Ile) c.5889G>A (p.Met1963Ile) c.5190G>A (p.Met1730Ile) c.5937G>A (p.Met1979Ile) | dbSNP gnomAD v4 |
16 | g.3729105A>C | CA394554889 | CREBBP | c.5942T>G (p.Met1981Arg) c.5828T>G (p.Met1943Arg) c.5897T>G (p.Met1966Arg) c.5525T>G (p.Met1842Arg) c.5681T>G (p.Met1894Arg) c.5888T>G (p.Met1963Arg) c.5189T>G (p.Met1730Arg) c.5936T>G (p.Met1979Arg) | dbSNP |
16 | g.3729105A>G | CA394554891 | CREBBP | c.5942T>C (p.Met1981Thr) c.5828T>C (p.Met1943Thr) c.5897T>C (p.Met1966Thr) c.5525T>C (p.Met1842Thr) c.5681T>C (p.Met1894Thr) c.5888T>C (p.Met1963Thr) c.5189T>C (p.Met1730Thr) c.5936T>C (p.Met1979Thr) | dbSNP gnomAD v4 |
16 | g.3729105A>T | CA394554893 | CREBBP | c.5942T>A (p.Met1981Lys) c.5828T>A (p.Met1943Lys) c.5897T>A (p.Met1966Lys) c.5525T>A (p.Met1842Lys) c.5681T>A (p.Met1894Lys) c.5888T>A (p.Met1963Lys) c.5189T>A (p.Met1730Lys) c.5936T>A (p.Met1979Lys) | dbSNP |
16 | g.3729106T>A | CA394554896 | CREBBP | c.5941A>T (p.Met1981Leu) c.5827A>T (p.Met1943Leu) c.5896A>T (p.Met1966Leu) c.5524A>T (p.Met1842Leu) c.5680A>T (p.Met1894Leu) c.5887A>T (p.Met1963Leu) c.5188A>T (p.Met1730Leu) c.5935A>T (p.Met1979Leu) | gnomAD v4 |
16 | g.3729106T>C | CA394554897 | CREBBP | c.5941A>G (p.Met1981Val) c.5827A>G (p.Met1943Val) c.5896A>G (p.Met1966Val) c.5524A>G (p.Met1842Val) c.5680A>G (p.Met1894Val) c.5887A>G (p.Met1963Val) c.5188A>G (p.Met1730Val) c.5935A>G (p.Met1979Val) | dbSNP gnomAD v4 |
16 | g.3729106T>G | CA394554895 | CREBBP | c.5941A>C (p.Met1981Leu) c.5827A>C (p.Met1943Leu) c.5896A>C (p.Met1966Leu) c.5524A>C (p.Met1842Leu) c.5680A>C (p.Met1894Leu) c.5887A>C (p.Met1963Leu) c.5188A>C (p.Met1730Leu) c.5935A>C (p.Met1979Leu) | |
16 | g.3729107G>A | CA276971855 | CREBBP | c.5940C>T (p.Ser1980=) c.5826C>T (p.Ser1942=) c.5895C>T (p.Ser1965=) c.5523C>T (p.Ser1841=) c.5679C>T (p.Ser1893=) c.5886C>T (p.Ser1962=) c.5187C>T (p.Ser1729=) c.5934C>T (p.Ser1978=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729107G>C | CA394554901 | CREBBP | c.5940C>G (p.Ser1980Arg) c.5826C>G (p.Ser1942Arg) c.5895C>G (p.Ser1965Arg) c.5523C>G (p.Ser1841Arg) c.5679C>G (p.Ser1893Arg) c.5886C>G (p.Ser1962Arg) c.5187C>G (p.Ser1729Arg) c.5934C>G (p.Ser1978Arg) | dbSNP gnomAD v4 |
16 | g.3729107G= | CA2202916225 | CREBBP | c.5940C= (p.Ser1980=) c.5826C= (p.Ser1942=) c.5895C= (p.Ser1965=) c.5523C= (p.Ser1841=) c.5679C= (p.Ser1893=) c.5886C= (p.Ser1962=) c.5187C= (p.Ser1729=) c.5934C= (p.Ser1978=) | |
16 | g.3729107G>T | CA394554899 | CREBBP | c.5940C>A (p.Ser1980Arg) c.5826C>A (p.Ser1942Arg) c.5895C>A (p.Ser1965Arg) c.5523C>A (p.Ser1841Arg) c.5679C>A (p.Ser1893Arg) c.5886C>A (p.Ser1962Arg) c.5187C>A (p.Ser1729Arg) c.5934C>A (p.Ser1978Arg) | dbSNP gnomAD v4 |
16 | g.3729108C>A | CA394554903 | CREBBP | c.5939G>T (p.Ser1980Ile) c.5825G>T (p.Ser1942Ile) c.5894G>T (p.Ser1965Ile) c.5522G>T (p.Ser1841Ile) c.5678G>T (p.Ser1893Ile) c.5885G>T (p.Ser1962Ile) c.5186G>T (p.Ser1729Ile) c.5933G>T (p.Ser1978Ile) | gnomAD v4 |
16 | g.3729108C= | CA2202916226 | CREBBP | c.5939G= (p.Ser1980=) c.5825G= (p.Ser1942=) c.5894G= (p.Ser1965=) c.5522G= (p.Ser1841=) c.5678G= (p.Ser1893=) c.5885G= (p.Ser1962=) c.5186G= (p.Ser1729=) c.5933G= (p.Ser1978=) | |
16 | g.3729108C>G | CA7869218 | CREBBP | c.5939G>C (p.Ser1980Thr) c.5825G>C (p.Ser1942Thr) c.5894G>C (p.Ser1965Thr) c.5522G>C (p.Ser1841Thr) c.5678G>C (p.Ser1893Thr) c.5885G>C (p.Ser1962Thr) c.5186G>C (p.Ser1729Thr) c.5933G>C (p.Ser1978Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729108C>T | CA394554905 | CREBBP | c.5939G>A (p.Ser1980Asn) c.5825G>A (p.Ser1942Asn) c.5894G>A (p.Ser1965Asn) c.5522G>A (p.Ser1841Asn) c.5678G>A (p.Ser1893Asn) c.5885G>A (p.Ser1962Asn) c.5186G>A (p.Ser1729Asn) c.5933G>A (p.Ser1978Asn) | gnomAD v4 |
16 | g.3729108_3729111delinsCTGT | CA2202916227 | CREBBP | c.5936_5939delinsACAG (p.Asn1979=) c.5822_5825delinsACAG (p.Asn1941=) c.5891_5894delinsACAG (p.Asn1964=) c.5519_5522delinsACAG (p.Asn1840=) c.5675_5678delinsACAG (p.Asn1892=) c.5882_5885delinsACAG (p.Asn1961=) c.5183_5186delinsACAG (p.Asn1728=) c.5930_5933delinsACAG (p.Asn1977=) | |
16 | g.3729109T>A | CA394554908 | CREBBP | c.5938A>T (p.Ser1980Cys) c.5824A>T (p.Ser1942Cys) c.5893A>T (p.Ser1965Cys) c.5521A>T (p.Ser1841Cys) c.5677A>T (p.Ser1893Cys) c.5884A>T (p.Ser1962Cys) c.5185A>T (p.Ser1729Cys) c.5932A>T (p.Ser1978Cys) | dbSNP |
16 | g.3729109T>C | CA7869220 | CREBBP | c.5938A>G (p.Ser1980Gly) c.5824A>G (p.Ser1942Gly) c.5893A>G (p.Ser1965Gly) c.5521A>G (p.Ser1841Gly) c.5677A>G (p.Ser1893Gly) c.5884A>G (p.Ser1962Gly) c.5185A>G (p.Ser1729Gly) c.5932A>G (p.Ser1978Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729109T>G | CA394554910 | CREBBP | c.5938A>C (p.Ser1980Arg) c.5824A>C (p.Ser1942Arg) c.5893A>C (p.Ser1965Arg) c.5521A>C (p.Ser1841Arg) c.5677A>C (p.Ser1893Arg) c.5884A>C (p.Ser1962Arg) c.5185A>C (p.Ser1729Arg) c.5932A>C (p.Ser1978Arg) | |
16 | g.3729109T= | CA2202916229 | CREBBP | c.5938A= (p.Ser1980=) c.5824A= (p.Ser1942=) c.5893A= (p.Ser1965=) c.5521A= (p.Ser1841=) c.5677A= (p.Ser1893=) c.5884A= (p.Ser1962=) c.5185A= (p.Ser1729=) c.5932A= (p.Ser1978=) | |
16 | g.3729114_3729116dup | CA2202916228 | CREBBP | c.5936_5938dup (p.Asn1979_Ser1980insAsn) c.5822_5824dup (p.Asn1941_Ser1942insAsn) c.5891_5893dup (p.Asn1964_Ser1965insAsn) c.5519_5521dup (p.Asn1840_Ser1841insAsn) c.5675_5677dup (p.Asn1892_Ser1893insAsn) c.5882_5884dup (p.Asn1961_Ser1962insAsn) c.5183_5185dup (p.Asn1728_Ser1729insAsn) c.5930_5932dup (p.Asn1977_Ser1978insAsn) | dbSNP |
16 | g.3729114_3729116del | CA7869219 | CREBBP | c.5936_5938del (p.Asn1979del) c.5822_5824del (p.Asn1941del) c.5891_5893del (p.Asn1964del) c.5519_5521del (p.Asn1840del) c.5675_5677del (p.Asn1892del) c.5882_5884del (p.Asn1961del) c.5183_5185del (p.Asn1728del) c.5930_5932del (p.Asn1977del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729110G>A | CA493394304 | CREBBP | c.5937C>T (p.Asn1979=) c.5823C>T (p.Asn1941=) c.5892C>T (p.Asn1964=) c.5520C>T (p.Asn1840=) c.5676C>T (p.Asn1892=) c.5883C>T (p.Asn1961=) c.5184C>T (p.Asn1728=) c.5931C>T (p.Asn1977=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729110G>C | CA394554912 | CREBBP | c.5937C>G (p.Asn1979Lys) c.5823C>G (p.Asn1941Lys) c.5892C>G (p.Asn1964Lys) c.5520C>G (p.Asn1840Lys) c.5676C>G (p.Asn1892Lys) c.5883C>G (p.Asn1961Lys) c.5184C>G (p.Asn1728Lys) c.5931C>G (p.Asn1977Lys) | dbSNP |
16 | g.3729110G= | CA2202916230 | CREBBP | c.5937C= (p.Asn1979=) c.5823C= (p.Asn1941=) c.5892C= (p.Asn1964=) c.5520C= (p.Asn1840=) c.5676C= (p.Asn1892=) c.5883C= (p.Asn1961=) c.5184C= (p.Asn1728=) c.5931C= (p.Asn1977=) | |
16 | g.3729110G>T | CA394554914 | CREBBP | c.5937C>A (p.Asn1979Lys) c.5823C>A (p.Asn1941Lys) c.5892C>A (p.Asn1964Lys) c.5520C>A (p.Asn1840Lys) c.5676C>A (p.Asn1892Lys) c.5883C>A (p.Asn1961Lys) c.5184C>A (p.Asn1728Lys) c.5931C>A (p.Asn1977Lys) | gnomAD v4 |
16 | g.3729110_3729111insA | CA277105 | CREBBP | c.5936_5937insT (p.Ser1980GlnfsTer?) c.5822_5823insT (p.Ser1942GlnfsTer?) c.5891_5892insT (p.Ser1965GlnfsTer?) c.5519_5520insT (p.Ser1841GlnfsTer?) c.5675_5676insT (p.Ser1893GlnfsTer?) c.5882_5883insT (p.Ser1962GlnfsTer?) c.5183_5184insT (p.Ser1729GlnfsTer?) c.5930_5931insT (p.Ser1978GlnfsTer?) | ClinVar dbSNP |
16 | g.3729111T>A | CA394554921 | CREBBP | c.5936A>T (p.Asn1979Ile) c.5822A>T (p.Asn1941Ile) c.5891A>T (p.Asn1964Ile) c.5519A>T (p.Asn1840Ile) c.5675A>T (p.Asn1892Ile) c.5882A>T (p.Asn1961Ile) c.5183A>T (p.Asn1728Ile) c.5930A>T (p.Asn1977Ile) | dbSNP |
16 | g.3729111T>C | CA394554919 | CREBBP | c.5936A>G (p.Asn1979Ser) c.5822A>G (p.Asn1941Ser) c.5891A>G (p.Asn1964Ser) c.5519A>G (p.Asn1840Ser) c.5675A>G (p.Asn1892Ser) c.5882A>G (p.Asn1961Ser) c.5183A>G (p.Asn1728Ser) c.5930A>G (p.Asn1977Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729111T>G | CA394554917 | CREBBP | c.5936A>C (p.Asn1979Thr) c.5822A>C (p.Asn1941Thr) c.5891A>C (p.Asn1964Thr) c.5519A>C (p.Asn1840Thr) c.5675A>C (p.Asn1892Thr) c.5882A>C (p.Asn1961Thr) c.5183A>C (p.Asn1728Thr) c.5930A>C (p.Asn1977Thr) | dbSNP |
16 | g.3729111T= | CA2202916231 | CREBBP | c.5936A= (p.Asn1979=) c.5822A= (p.Asn1941=) c.5891A= (p.Asn1964=) c.5519A= (p.Asn1840=) c.5675A= (p.Asn1892=) c.5882A= (p.Asn1961=) c.5183A= (p.Asn1728=) c.5930A= (p.Asn1977=) | |
16 | g.3729112T>A | CA394554924 | CREBBP | c.5935A>T (p.Asn1979Tyr) c.5821A>T (p.Asn1941Tyr) c.5890A>T (p.Asn1964Tyr) c.5518A>T (p.Asn1840Tyr) c.5674A>T (p.Asn1892Tyr) c.5881A>T (p.Asn1961Tyr) c.5182A>T (p.Asn1728Tyr) c.5929A>T (p.Asn1977Tyr) | |
16 | g.3729112T>C | CA394554925 | CREBBP | c.5935A>G (p.Asn1979Asp) c.5821A>G (p.Asn1941Asp) c.5890A>G (p.Asn1964Asp) c.5518A>G (p.Asn1840Asp) c.5674A>G (p.Asn1892Asp) c.5881A>G (p.Asn1961Asp) c.5182A>G (p.Asn1728Asp) c.5929A>G (p.Asn1977Asp) | |
16 | g.3729112T>G | CA394554926 | CREBBP | c.5935A>C (p.Asn1979His) c.5821A>C (p.Asn1941His) c.5890A>C (p.Asn1964His) c.5518A>C (p.Asn1840His) c.5674A>C (p.Asn1892His) c.5881A>C (p.Asn1961His) c.5182A>C (p.Asn1728His) c.5929A>C (p.Asn1977His) | |
16 | g.3729113G>A | CA7869221 | CREBBP | c.5934C>T (p.Asn1978=) c.5820C>T (p.Asn1940=) c.5889C>T (p.Asn1963=) c.5517C>T (p.Asn1839=) c.5673C>T (p.Asn1891=) c.5880C>T (p.Asn1960=) c.5181C>T (p.Asn1727=) c.5928C>T (p.Asn1976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729113G>C | CA7869222 | CREBBP | c.5934C>G (p.Asn1978Lys) c.5820C>G (p.Asn1940Lys) c.5889C>G (p.Asn1963Lys) c.5517C>G (p.Asn1839Lys) c.5673C>G (p.Asn1891Lys) c.5880C>G (p.Asn1960Lys) c.5181C>G (p.Asn1727Lys) c.5928C>G (p.Asn1976Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729113G= | CA2202916232 | CREBBP | c.5934C= (p.Asn1978=) c.5820C= (p.Asn1940=) c.5889C= (p.Asn1963=) c.5517C= (p.Asn1839=) c.5673C= (p.Asn1891=) c.5880C= (p.Asn1960=) c.5181C= (p.Asn1727=) c.5928C= (p.Asn1976=) | |
16 | g.3729113G>T | CA394554930 | CREBBP | c.5934C>A (p.Asn1978Lys) c.5820C>A (p.Asn1940Lys) c.5889C>A (p.Asn1963Lys) c.5517C>A (p.Asn1839Lys) c.5673C>A (p.Asn1891Lys) c.5880C>A (p.Asn1960Lys) c.5181C>A (p.Asn1727Lys) c.5928C>A (p.Asn1976Lys) | gnomAD v4 |
16 | g.3729114T>A | CA7869223 | CREBBP | c.5933A>T (p.Asn1978Ile) c.5819A>T (p.Asn1940Ile) c.5888A>T (p.Asn1963Ile) c.5516A>T (p.Asn1839Ile) c.5672A>T (p.Asn1891Ile) c.5879A>T (p.Asn1960Ile) c.5180A>T (p.Asn1727Ile) c.5927A>T (p.Asn1976Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729114T>C | CA148132 | CREBBP | c.5933A>G (p.Asn1978Ser) c.5819A>G (p.Asn1940Ser) c.5888A>G (p.Asn1963Ser) c.5516A>G (p.Asn1839Ser) c.5672A>G (p.Asn1891Ser) c.5879A>G (p.Asn1960Ser) c.5180A>G (p.Asn1727Ser) c.5927A>G (p.Asn1976Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729114T>G | CA394554934 | CREBBP | c.5933A>C (p.Asn1978Thr) c.5819A>C (p.Asn1940Thr) c.5888A>C (p.Asn1963Thr) c.5516A>C (p.Asn1839Thr) c.5672A>C (p.Asn1891Thr) c.5879A>C (p.Asn1960Thr) c.5180A>C (p.Asn1727Thr) c.5927A>C (p.Asn1976Thr) | dbSNP |
16 | g.3729114T= | CA2202916233 | CREBBP | c.5933A= (p.Asn1978=) c.5819A= (p.Asn1940=) c.5888A= (p.Asn1963=) c.5516A= (p.Asn1839=) c.5672A= (p.Asn1891=) c.5879A= (p.Asn1960=) c.5180A= (p.Asn1727=) c.5927A= (p.Asn1976=) | |
16 | g.3729115T>A | CA394554936 | CREBBP | c.5932A>T (p.Asn1978Tyr) c.5818A>T (p.Asn1940Tyr) c.5887A>T (p.Asn1963Tyr) c.5515A>T (p.Asn1839Tyr) c.5671A>T (p.Asn1891Tyr) c.5878A>T (p.Asn1960Tyr) c.5179A>T (p.Asn1727Tyr) c.5926A>T (p.Asn1976Tyr) | dbSNP |
16 | g.3729115T>C | CA394554937 | CREBBP | c.5932A>G (p.Asn1978Asp) c.5818A>G (p.Asn1940Asp) c.5887A>G (p.Asn1963Asp) c.5515A>G (p.Asn1839Asp) c.5671A>G (p.Asn1891Asp) c.5878A>G (p.Asn1960Asp) c.5179A>G (p.Asn1727Asp) c.5926A>G (p.Asn1976Asp) | dbSNP gnomAD v4 COSMIC |
16 | g.3729115T>G | CA394554939 | CREBBP | c.5932A>C (p.Asn1978His) c.5818A>C (p.Asn1940His) c.5887A>C (p.Asn1963His) c.5515A>C (p.Asn1839His) c.5671A>C (p.Asn1891His) c.5878A>C (p.Asn1960His) c.5179A>C (p.Asn1727His) c.5926A>C (p.Asn1976His) | |
16 | g.3729116G>A | CA493394314 | CREBBP | c.5931C>T (p.Ile1977=) c.5817C>T (p.Ile1939=) c.5886C>T (p.Ile1962=) c.5514C>T (p.Ile1838=) c.5670C>T (p.Ile1890=) c.5877C>T (p.Ile1959=) c.5178C>T (p.Ile1726=) c.5925C>T (p.Ile1975=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729116G>C | CA394554941 | CREBBP | c.5931C>G (p.Ile1977Met) c.5817C>G (p.Ile1939Met) c.5886C>G (p.Ile1962Met) c.5514C>G (p.Ile1838Met) c.5670C>G (p.Ile1890Met) c.5877C>G (p.Ile1959Met) c.5178C>G (p.Ile1726Met) c.5925C>G (p.Ile1975Met) | gnomAD v4 |
16 | g.3729116G= | CA2202916234 | CREBBP | c.5931C= (p.Ile1977=) c.5817C= (p.Ile1939=) c.5886C= (p.Ile1962=) c.5514C= (p.Ile1838=) c.5670C= (p.Ile1890=) c.5877C= (p.Ile1959=) c.5178C= (p.Ile1726=) c.5925C= (p.Ile1975=) | |
16 | g.3729116G>T | CA493394313 | CREBBP | c.5931C>A (p.Ile1977=) c.5817C>A (p.Ile1939=) c.5886C>A (p.Ile1962=) c.5514C>A (p.Ile1838=) c.5670C>A (p.Ile1890=) c.5877C>A (p.Ile1959=) c.5178C>A (p.Ile1726=) c.5925C>A (p.Ile1975=) | dbSNP gnomAD v4 |
16 | g.3729117A= | CA2202916235 | CREBBP | c.5930T= (p.Ile1977=) c.5816T= (p.Ile1939=) c.5885T= (p.Ile1962=) c.5513T= (p.Ile1838=) c.5669T= (p.Ile1890=) c.5876T= (p.Ile1959=) c.5177T= (p.Ile1726=) c.5924T= (p.Ile1975=) | |
16 | g.3729117A>C | CA394554944 | CREBBP | c.5930T>G (p.Ile1977Ser) c.5816T>G (p.Ile1939Ser) c.5885T>G (p.Ile1962Ser) c.5513T>G (p.Ile1838Ser) c.5669T>G (p.Ile1890Ser) c.5876T>G (p.Ile1959Ser) c.5177T>G (p.Ile1726Ser) c.5924T>G (p.Ile1975Ser) | |
16 | g.3729117A>G | CA394554946 | CREBBP | c.5930T>C (p.Ile1977Thr) c.5816T>C (p.Ile1939Thr) c.5885T>C (p.Ile1962Thr) c.5513T>C (p.Ile1838Thr) c.5669T>C (p.Ile1890Thr) c.5876T>C (p.Ile1959Thr) c.5177T>C (p.Ile1726Thr) c.5924T>C (p.Ile1975Thr) | dbSNP |
16 | g.3729117A>T | CA7869224 | CREBBP | c.5930T>A (p.Ile1977Asn) c.5816T>A (p.Ile1939Asn) c.5885T>A (p.Ile1962Asn) c.5513T>A (p.Ile1838Asn) c.5669T>A (p.Ile1890Asn) c.5876T>A (p.Ile1959Asn) c.5177T>A (p.Ile1726Asn) c.5924T>A (p.Ile1975Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729118T>A | CA394554948 | CREBBP | c.5929A>T (p.Ile1977Phe) c.5815A>T (p.Ile1939Phe) c.5884A>T (p.Ile1962Phe) c.5512A>T (p.Ile1838Phe) c.5668A>T (p.Ile1890Phe) c.5875A>T (p.Ile1959Phe) c.5176A>T (p.Ile1726Phe) c.5923A>T (p.Ile1975Phe) | |
16 | g.3729118T>C | CA394554950 | CREBBP | c.5929A>G (p.Ile1977Val) c.5815A>G (p.Ile1939Val) c.5884A>G (p.Ile1962Val) c.5512A>G (p.Ile1838Val) c.5668A>G (p.Ile1890Val) c.5875A>G (p.Ile1959Val) c.5176A>G (p.Ile1726Val) c.5923A>G (p.Ile1975Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729118T>G | CA394554951 | CREBBP | c.5929A>C (p.Ile1977Leu) c.5815A>C (p.Ile1939Leu) c.5884A>C (p.Ile1962Leu) c.5512A>C (p.Ile1838Leu) c.5668A>C (p.Ile1890Leu) c.5875A>C (p.Ile1959Leu) c.5176A>C (p.Ile1726Leu) c.5923A>C (p.Ile1975Leu) | |
16 | g.3729118T= | CA2202916236 | CREBBP | c.5929A= (p.Ile1977=) c.5815A= (p.Ile1939=) c.5884A= (p.Ile1962=) c.5512A= (p.Ile1838=) c.5668A= (p.Ile1890=) c.5875A= (p.Ile1959=) c.5176A= (p.Ile1726=) c.5923A= (p.Ile1975=) | |
16 | g.3729119G>A | CA493394316 | CREBBP | c.5928C>T (p.Asn1976=) c.5814C>T (p.Asn1938=) c.5883C>T (p.Asn1961=) c.5511C>T (p.Asn1837=) c.5667C>T (p.Asn1889=) c.5874C>T (p.Asn1958=) c.5175C>T (p.Asn1725=) c.5922C>T (p.Asn1974=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729119G>C | CA394554953 | CREBBP | c.5928C>G (p.Asn1976Lys) c.5814C>G (p.Asn1938Lys) c.5883C>G (p.Asn1961Lys) c.5511C>G (p.Asn1837Lys) c.5667C>G (p.Asn1889Lys) c.5874C>G (p.Asn1958Lys) c.5175C>G (p.Asn1725Lys) c.5922C>G (p.Asn1974Lys) | |
16 | g.3729119G= | CA2202916237 | CREBBP | c.5928C= (p.Asn1976=) c.5814C= (p.Asn1938=) c.5883C= (p.Asn1961=) c.5511C= (p.Asn1837=) c.5667C= (p.Asn1889=) c.5874C= (p.Asn1958=) c.5175C= (p.Asn1725=) c.5922C= (p.Asn1974=) | |
16 | g.3729119G>T | CA394554955 | CREBBP | c.5928C>A (p.Asn1976Lys) c.5814C>A (p.Asn1938Lys) c.5883C>A (p.Asn1961Lys) c.5511C>A (p.Asn1837Lys) c.5667C>A (p.Asn1889Lys) c.5874C>A (p.Asn1958Lys) c.5175C>A (p.Asn1725Lys) c.5922C>A (p.Asn1974Lys) | gnomAD v4 |
16 | g.3729120T>A | CA394554958 | CREBBP | c.5927A>T (p.Asn1976Ile) c.5813A>T (p.Asn1938Ile) c.5882A>T (p.Asn1961Ile) c.5510A>T (p.Asn1837Ile) c.5666A>T (p.Asn1889Ile) c.5873A>T (p.Asn1958Ile) c.5174A>T (p.Asn1725Ile) c.5921A>T (p.Asn1974Ile) | dbSNP |
16 | g.3729120T>C | CA394554959 | CREBBP | c.5927A>G (p.Asn1976Ser) c.5813A>G (p.Asn1938Ser) c.5882A>G (p.Asn1961Ser) c.5510A>G (p.Asn1837Ser) c.5666A>G (p.Asn1889Ser) c.5873A>G (p.Asn1958Ser) c.5174A>G (p.Asn1725Ser) c.5921A>G (p.Asn1974Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729120T>G | CA394554961 | CREBBP | c.5927A>C (p.Asn1976Thr) c.5813A>C (p.Asn1938Thr) c.5882A>C (p.Asn1961Thr) c.5510A>C (p.Asn1837Thr) c.5666A>C (p.Asn1889Thr) c.5873A>C (p.Asn1958Thr) c.5174A>C (p.Asn1725Thr) c.5921A>C (p.Asn1974Thr) | |
16 | g.3729120T= | CA2202916238 | CREBBP | c.5927A= (p.Asn1976=) c.5813A= (p.Asn1938=) c.5882A= (p.Asn1961=) c.5510A= (p.Asn1837=) c.5666A= (p.Asn1889=) c.5873A= (p.Asn1958=) c.5174A= (p.Asn1725=) c.5921A= (p.Asn1974=) | |
16 | g.3729121T>A | CA394554963 | CREBBP | c.5926A>T (p.Asn1976Tyr) c.5812A>T (p.Asn1938Tyr) c.5881A>T (p.Asn1961Tyr) c.5509A>T (p.Asn1837Tyr) c.5665A>T (p.Asn1889Tyr) c.5872A>T (p.Asn1958Tyr) c.5173A>T (p.Asn1725Tyr) c.5920A>T (p.Asn1974Tyr) | |
16 | g.3729121T>C | CA394554965 | CREBBP | c.5926A>G (p.Asn1976Asp) c.5812A>G (p.Asn1938Asp) c.5881A>G (p.Asn1961Asp) c.5509A>G (p.Asn1837Asp) c.5665A>G (p.Asn1889Asp) c.5872A>G (p.Asn1958Asp) c.5173A>G (p.Asn1725Asp) c.5920A>G (p.Asn1974Asp) | gnomAD v4 |
16 | g.3729121T>G | CA394554967 | CREBBP | c.5926A>C (p.Asn1976His) c.5812A>C (p.Asn1938His) c.5881A>C (p.Asn1961His) c.5509A>C (p.Asn1837His) c.5665A>C (p.Asn1889His) c.5872A>C (p.Asn1958His) c.5173A>C (p.Asn1725His) c.5920A>C (p.Asn1974His) | |
16 | g.3729122C>A | CA276971887 | CREBBP | c.5925G>T (p.Val1975=) c.5811G>T (p.Val1937=) c.5880G>T (p.Val1960=) c.5508G>T (p.Val1836=) c.5664G>T (p.Val1888=) c.5871G>T (p.Val1957=) c.5172G>T (p.Val1724=) c.5919G>T (p.Val1973=) | dbSNP gnomAD v4 |
16 | g.3729122C= | CA2202916239 | CREBBP | c.5925G= (p.Val1975=) c.5811G= (p.Val1937=) c.5880G= (p.Val1960=) c.5508G= (p.Val1836=) c.5664G= (p.Val1888=) c.5871G= (p.Val1957=) c.5172G= (p.Val1724=) c.5919G= (p.Val1973=) | |
16 | g.3729122C>G | CA493394321 | CREBBP | c.5925G>C (p.Val1975=) c.5811G>C (p.Val1937=) c.5880G>C (p.Val1960=) c.5508G>C (p.Val1836=) c.5664G>C (p.Val1888=) c.5871G>C (p.Val1957=) c.5172G>C (p.Val1724=) c.5919G>C (p.Val1973=) | dbSNP |
16 | g.3729122C>T | CA7869225 | CREBBP | c.5925G>A (p.Val1975=) c.5811G>A (p.Val1937=) c.5880G>A (p.Val1960=) c.5508G>A (p.Val1836=) c.5664G>A (p.Val1888=) c.5871G>A (p.Val1957=) c.5172G>A (p.Val1724=) c.5919G>A (p.Val1973=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729123A>C | CA394554971 | CREBBP | c.5924T>G (p.Val1975Gly) c.5810T>G (p.Val1937Gly) c.5879T>G (p.Val1960Gly) c.5507T>G (p.Val1836Gly) c.5663T>G (p.Val1888Gly) c.5870T>G (p.Val1957Gly) c.5171T>G (p.Val1724Gly) c.5918T>G (p.Val1973Gly) | dbSNP gnomAD v4 |
16 | g.3729123A>G | CA394554973 | CREBBP | c.5924T>C (p.Val1975Ala) c.5810T>C (p.Val1937Ala) c.5879T>C (p.Val1960Ala) c.5507T>C (p.Val1836Ala) c.5663T>C (p.Val1888Ala) c.5870T>C (p.Val1957Ala) c.5171T>C (p.Val1724Ala) c.5918T>C (p.Val1973Ala) | |
16 | g.3729123A>T | CA394554969 | CREBBP | c.5924T>A (p.Val1975Glu) c.5810T>A (p.Val1937Glu) c.5879T>A (p.Val1960Glu) c.5507T>A (p.Val1836Glu) c.5663T>A (p.Val1888Glu) c.5870T>A (p.Val1957Glu) c.5171T>A (p.Val1724Glu) c.5918T>A (p.Val1973Glu) | dbSNP |
16 | g.3729124C>A | CA394554975 | CREBBP | c.5923G>T (p.Val1975Leu) c.5809G>T (p.Val1937Leu) c.5878G>T (p.Val1960Leu) c.5506G>T (p.Val1836Leu) c.5662G>T (p.Val1888Leu) c.5869G>T (p.Val1957Leu) c.5170G>T (p.Val1724Leu) c.5917G>T (p.Val1973Leu) | gnomAD v4 |
16 | g.3729124C>G | CA394554977 | CREBBP | c.5923G>C (p.Val1975Leu) c.5809G>C (p.Val1937Leu) c.5878G>C (p.Val1960Leu) c.5506G>C (p.Val1836Leu) c.5662G>C (p.Val1888Leu) c.5869G>C (p.Val1957Leu) c.5170G>C (p.Val1724Leu) c.5917G>C (p.Val1973Leu) | dbSNP gnomAD v4 |
16 | g.3729124C>T | CA394554979 | CREBBP | c.5923G>A (p.Val1975Met) c.5809G>A (p.Val1937Met) c.5878G>A (p.Val1960Met) c.5506G>A (p.Val1836Met) c.5662G>A (p.Val1888Met) c.5869G>A (p.Val1957Met) c.5170G>A (p.Val1724Met) c.5917G>A (p.Val1973Met) | dbSNP gnomAD v4 |
16 | g.3729125C>A | CA493394324 | CREBBP | c.5922G>T (p.Arg1974=) c.5808G>T (p.Arg1936=) c.5877G>T (p.Arg1959=) c.5505G>T (p.Arg1835=) c.5661G>T (p.Arg1887=) c.5868G>T (p.Arg1956=) c.5169G>T (p.Arg1723=) c.5916G>T (p.Arg1972=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729125C= | CA2202916240 | CREBBP | c.5922G= (p.Arg1974=) c.5808G= (p.Arg1936=) c.5877G= (p.Arg1959=) c.5505G= (p.Arg1835=) c.5661G= (p.Arg1887=) c.5868G= (p.Arg1956=) c.5169G= (p.Arg1723=) c.5916G= (p.Arg1972=) | |
16 | g.3729125C>G | CA493394325 | CREBBP | c.5922G>C (p.Arg1974=) c.5808G>C (p.Arg1936=) c.5877G>C (p.Arg1959=) c.5505G>C (p.Arg1835=) c.5661G>C (p.Arg1887=) c.5868G>C (p.Arg1956=) c.5169G>C (p.Arg1723=) c.5916G>C (p.Arg1972=) | dbSNP |
16 | g.3729125C>T | CA7869226 | CREBBP | c.5922G>A (p.Arg1974=) c.5808G>A (p.Arg1936=) c.5877G>A (p.Arg1959=) c.5505G>A (p.Arg1835=) c.5661G>A (p.Arg1887=) c.5868G>A (p.Arg1956=) c.5169G>A (p.Arg1723=) c.5916G>A (p.Arg1972=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729126C>A | CA394554982 | CREBBP | c.5921G>T (p.Arg1974Leu) c.5807G>T (p.Arg1936Leu) c.5876G>T (p.Arg1959Leu) c.5504G>T (p.Arg1835Leu) c.5660G>T (p.Arg1887Leu) c.5867G>T (p.Arg1956Leu) c.5168G>T (p.Arg1723Leu) c.5915G>T (p.Arg1972Leu) | dbSNP gnomAD v4 |
16 | g.3729126C= | CA2202916241 | CREBBP | c.5921G= (p.Arg1974=) c.5807G= (p.Arg1936=) c.5876G= (p.Arg1959=) c.5504G= (p.Arg1835=) c.5660G= (p.Arg1887=) c.5867G= (p.Arg1956=) c.5168G= (p.Arg1723=) c.5915G= (p.Arg1972=) | |
16 | g.3729126C>G | CA394554984 | CREBBP | c.5921G>C (p.Arg1974Pro) c.5807G>C (p.Arg1936Pro) c.5876G>C (p.Arg1959Pro) c.5504G>C (p.Arg1835Pro) c.5660G>C (p.Arg1887Pro) c.5867G>C (p.Arg1956Pro) c.5168G>C (p.Arg1723Pro) c.5915G>C (p.Arg1972Pro) | dbSNP |
16 | g.3729126C>T | CA7869227 | CREBBP | c.5921G>A (p.Arg1974Gln) c.5807G>A (p.Arg1936Gln) c.5876G>A (p.Arg1959Gln) c.5504G>A (p.Arg1835Gln) c.5660G>A (p.Arg1887Gln) c.5867G>A (p.Arg1956Gln) c.5168G>A (p.Arg1723Gln) c.5915G>A (p.Arg1972Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729127G>A | CA394554987 | CREBBP | c.5920C>T (p.Arg1974Trp) c.5806C>T (p.Arg1936Trp) c.5875C>T (p.Arg1959Trp) c.5503C>T (p.Arg1835Trp) c.5659C>T (p.Arg1887Trp) c.5866C>T (p.Arg1956Trp) c.5167C>T (p.Arg1723Trp) c.5914C>T (p.Arg1972Trp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729127G>C | CA394554989 | CREBBP | c.5920C>G (p.Arg1974Gly) c.5806C>G (p.Arg1936Gly) c.5875C>G (p.Arg1959Gly) c.5503C>G (p.Arg1835Gly) c.5659C>G (p.Arg1887Gly) c.5866C>G (p.Arg1956Gly) c.5167C>G (p.Arg1723Gly) c.5914C>G (p.Arg1972Gly) | |
16 | g.3729127G= | CA2202916242 | CREBBP | c.5920C= (p.Arg1974=) c.5806C= (p.Arg1936=) c.5875C= (p.Arg1959=) c.5503C= (p.Arg1835=) c.5659C= (p.Arg1887=) c.5866C= (p.Arg1956=) c.5167C= (p.Arg1723=) c.5914C= (p.Arg1972=) | |
16 | g.3729127G>T | CA493394326 | CREBBP | c.5920C>A (p.Arg1974=) c.5806C>A (p.Arg1936=) c.5875C>A (p.Arg1959=) c.5503C>A (p.Arg1835=) c.5659C>A (p.Arg1887=) c.5866C>A (p.Arg1956=) c.5167C>A (p.Arg1723=) c.5914C>A (p.Arg1972=) | gnomAD v4 |
16 | g.3729128G>A | CA493394329 | CREBBP | c.5919C>T (p.Tyr1973=) c.5805C>T (p.Tyr1935=) c.5874C>T (p.Tyr1958=) c.5502C>T (p.Tyr1834=) c.5658C>T (p.Tyr1886=) c.5865C>T (p.Tyr1955=) c.5166C>T (p.Tyr1722=) c.5913C>T (p.Tyr1971=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729128G>C | CA394554990 | CREBBP | c.5919C>G (p.Tyr1973Ter) c.5805C>G (p.Tyr1935Ter) c.5874C>G (p.Tyr1958Ter) c.5502C>G (p.Tyr1834Ter) c.5658C>G (p.Tyr1886Ter) c.5865C>G (p.Tyr1955Ter) c.5166C>G (p.Tyr1722Ter) c.5913C>G (p.Tyr1971Ter) | dbSNP |
16 | g.3729128G>T | CA394554991 | CREBBP | c.5919C>A (p.Tyr1973Ter) c.5805C>A (p.Tyr1935Ter) c.5874C>A (p.Tyr1958Ter) c.5502C>A (p.Tyr1834Ter) c.5658C>A (p.Tyr1886Ter) c.5865C>A (p.Tyr1955Ter) c.5166C>A (p.Tyr1722Ter) c.5913C>A (p.Tyr1971Ter) | gnomAD v4 |
16 | g.3729129T>A | CA394554994 | CREBBP | c.5918A>T (p.Tyr1973Phe) c.5804A>T (p.Tyr1935Phe) c.5873A>T (p.Tyr1958Phe) c.5501A>T (p.Tyr1834Phe) c.5657A>T (p.Tyr1886Phe) c.5864A>T (p.Tyr1955Phe) c.5165A>T (p.Tyr1722Phe) c.5912A>T (p.Tyr1971Phe) | dbSNP |
16 | g.3729129T>C | CA394554996 | CREBBP | c.5918A>G (p.Tyr1973Cys) c.5804A>G (p.Tyr1935Cys) c.5873A>G (p.Tyr1958Cys) c.5501A>G (p.Tyr1834Cys) c.5657A>G (p.Tyr1886Cys) c.5864A>G (p.Tyr1955Cys) c.5165A>G (p.Tyr1722Cys) c.5912A>G (p.Tyr1971Cys) | dbSNP |
16 | g.3729129T>G | CA394554997 | CREBBP | c.5918A>C (p.Tyr1973Ser) c.5804A>C (p.Tyr1935Ser) c.5873A>C (p.Tyr1958Ser) c.5501A>C (p.Tyr1834Ser) c.5657A>C (p.Tyr1886Ser) c.5864A>C (p.Tyr1955Ser) c.5165A>C (p.Tyr1722Ser) c.5912A>C (p.Tyr1971Ser) | dbSNP |
16 | g.3729130A>C | CA394555004 | CREBBP | c.5917T>G (p.Tyr1973Asp) c.5803T>G (p.Tyr1935Asp) c.5872T>G (p.Tyr1958Asp) c.5500T>G (p.Tyr1834Asp) c.5656T>G (p.Tyr1886Asp) c.5863T>G (p.Tyr1955Asp) c.5164T>G (p.Tyr1722Asp) c.5911T>G (p.Tyr1971Asp) | dbSNP |
16 | g.3729130A>G | CA394555002 | CREBBP | c.5917T>C (p.Tyr1973His) c.5803T>C (p.Tyr1935His) c.5872T>C (p.Tyr1958His) c.5500T>C (p.Tyr1834His) c.5656T>C (p.Tyr1886His) c.5863T>C (p.Tyr1955His) c.5164T>C (p.Tyr1722His) c.5911T>C (p.Tyr1971His) | dbSNP gnomAD v4 |
16 | g.3729130A>T | CA394555001 | CREBBP | c.5917T>A (p.Tyr1973Asn) c.5803T>A (p.Tyr1935Asn) c.5872T>A (p.Tyr1958Asn) c.5500T>A (p.Tyr1834Asn) c.5656T>A (p.Tyr1886Asn) c.5863T>A (p.Tyr1955Asn) c.5164T>A (p.Tyr1722Asn) c.5911T>A (p.Tyr1971Asn) | dbSNP |
16 | g.3729131C>A | CA493394336 | CREBBP | c.5916G>T (p.Leu1972=) c.5802G>T (p.Leu1934=) c.5871G>T (p.Leu1957=) c.5499G>T (p.Leu1833=) c.5655G>T (p.Leu1885=) c.5862G>T (p.Leu1954=) c.5163G>T (p.Leu1721=) c.5910G>T (p.Leu1970=) | gnomAD v4 |
16 | g.3729131C>G | CA493394337 | CREBBP | c.5916G>C (p.Leu1972=) c.5802G>C (p.Leu1934=) c.5871G>C (p.Leu1957=) c.5499G>C (p.Leu1833=) c.5655G>C (p.Leu1885=) c.5862G>C (p.Leu1954=) c.5163G>C (p.Leu1721=) c.5910G>C (p.Leu1970=) | dbSNP |
16 | g.3729131C>T | CA493394335 | CREBBP | c.5916G>A (p.Leu1972=) c.5802G>A (p.Leu1934=) c.5871G>A (p.Leu1957=) c.5499G>A (p.Leu1833=) c.5655G>A (p.Leu1885=) c.5862G>A (p.Leu1954=) c.5163G>A (p.Leu1721=) c.5910G>A (p.Leu1970=) | dbSNP gnomAD v4 |
16 | g.3729132A= | CA2202916243 | CREBBP | c.5915T= (p.Leu1972=) c.5801T= (p.Leu1934=) c.5870T= (p.Leu1957=) c.5498T= (p.Leu1833=) c.5654T= (p.Leu1885=) c.5861T= (p.Leu1954=) c.5162T= (p.Leu1721=) c.5909T= (p.Leu1970=) | |
16 | g.3729132A>C | CA394555006 | CREBBP | c.5915T>G (p.Leu1972Arg) c.5801T>G (p.Leu1934Arg) c.5870T>G (p.Leu1957Arg) c.5498T>G (p.Leu1833Arg) c.5654T>G (p.Leu1885Arg) c.5861T>G (p.Leu1954Arg) c.5162T>G (p.Leu1721Arg) c.5909T>G (p.Leu1970Arg) | |
16 | g.3729132A>G | CA394555009 | CREBBP | c.5915T>C (p.Leu1972Pro) c.5801T>C (p.Leu1934Pro) c.5870T>C (p.Leu1957Pro) c.5498T>C (p.Leu1833Pro) c.5654T>C (p.Leu1885Pro) c.5861T>C (p.Leu1954Pro) c.5162T>C (p.Leu1721Pro) c.5909T>C (p.Leu1970Pro) | dbSNP gnomAD v4 |
16 | g.3729132A>T | CA394555008 | CREBBP | c.5915T>A (p.Leu1972Gln) c.5801T>A (p.Leu1934Gln) c.5870T>A (p.Leu1957Gln) c.5498T>A (p.Leu1833Gln) c.5654T>A (p.Leu1885Gln) c.5861T>A (p.Leu1954Gln) c.5162T>A (p.Leu1721Gln) c.5909T>A (p.Leu1970Gln) | gnomAD v4 |
16 | g.3729133G>A | CA493394341 | CREBBP | c.5914C>T (p.Leu1972=) c.5800C>T (p.Leu1934=) c.5869C>T (p.Leu1957=) c.5497C>T (p.Leu1833=) c.5653C>T (p.Leu1885=) c.5860C>T (p.Leu1954=) c.5161C>T (p.Leu1721=) c.5908C>T (p.Leu1970=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729133G>C | CA394555010 | CREBBP | c.5914C>G (p.Leu1972Val) c.5800C>G (p.Leu1934Val) c.5869C>G (p.Leu1957Val) c.5497C>G (p.Leu1833Val) c.5653C>G (p.Leu1885Val) c.5860C>G (p.Leu1954Val) c.5161C>G (p.Leu1721Val) c.5908C>G (p.Leu1970Val) | dbSNP |
16 | g.3729133G= | CA2202916244 | CREBBP | c.5914C= (p.Leu1972=) c.5800C= (p.Leu1934=) c.5869C= (p.Leu1957=) c.5497C= (p.Leu1833=) c.5653C= (p.Leu1885=) c.5860C= (p.Leu1954=) c.5161C= (p.Leu1721=) c.5908C= (p.Leu1970=) | |
16 | g.3729133G>T | CA394555011 | CREBBP | c.5914C>A (p.Leu1972Met) c.5800C>A (p.Leu1934Met) c.5869C>A (p.Leu1957Met) c.5497C>A (p.Leu1833Met) c.5653C>A (p.Leu1885Met) c.5860C>A (p.Leu1954Met) c.5161C>A (p.Leu1721Met) c.5908C>A (p.Leu1970Met) | dbSNP gnomAD v4 |
16 | g.3729134G>A | CA493394343 | CREBBP | c.5913C>T (p.His1971=) c.5799C>T (p.His1933=) c.5868C>T (p.His1956=) c.5496C>T (p.His1832=) c.5652C>T (p.His1884=) c.5859C>T (p.His1953=) c.5160C>T (p.His1720=) c.5907C>T (p.His1969=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729134G>C | CA394555012 | CREBBP | c.5913C>G (p.His1971Gln) c.5799C>G (p.His1933Gln) c.5868C>G (p.His1956Gln) c.5496C>G (p.His1832Gln) c.5652C>G (p.His1884Gln) c.5859C>G (p.His1953Gln) c.5160C>G (p.His1720Gln) c.5907C>G (p.His1969Gln) | |
16 | g.3729134G= | CA2202916246 | CREBBP | c.5913C= (p.His1971=) c.5799C= (p.His1933=) c.5868C= (p.His1956=) c.5496C= (p.His1832=) c.5652C= (p.His1884=) c.5859C= (p.His1953=) c.5160C= (p.His1720=) c.5907C= (p.His1969=) | |
16 | g.3729134G>T | CA394555013 | CREBBP | c.5913C>A (p.His1971Gln) c.5799C>A (p.His1933Gln) c.5868C>A (p.His1956Gln) c.5496C>A (p.His1832Gln) c.5652C>A (p.His1884Gln) c.5859C>A (p.His1953Gln) c.5160C>A (p.His1720Gln) c.5907C>A (p.His1969Gln) | gnomAD v4 |
16 | g.3729134_3729137delinsGTGC | CA2202916245 | CREBBP | c.5910_5913delinsGCAC (p.Gln1970=) c.5796_5799delinsGCAC (p.Gln1932=) c.5865_5868delinsGCAC (p.Gln1955=) c.5493_5496delinsGCAC (p.Gln1831=) c.5649_5652delinsGCAC (p.Gln1883=) c.5856_5859delinsGCAC (p.Gln1952=) c.5157_5160delinsGCAC (p.Gln1719=) c.5904_5907delinsGCAC (p.Gln1968=) | |
16 | g.3729135T>A | CA394555014 | CREBBP | c.5912A>T (p.His1971Leu) c.5798A>T (p.His1933Leu) c.5867A>T (p.His1956Leu) c.5495A>T (p.His1832Leu) c.5651A>T (p.His1884Leu) c.5858A>T (p.His1953Leu) c.5159A>T (p.His1720Leu) c.5906A>T (p.His1969Leu) | dbSNP |
16 | g.3729135T>C | CA394555015 | CREBBP | c.5912A>G (p.His1971Arg) c.5798A>G (p.His1933Arg) c.5867A>G (p.His1956Arg) c.5495A>G (p.His1832Arg) c.5651A>G (p.His1884Arg) c.5858A>G (p.His1953Arg) c.5159A>G (p.His1720Arg) c.5906A>G (p.His1969Arg) | |
16 | g.3729135T>G | CA394555016 | CREBBP | c.5912A>C (p.His1971Pro) c.5798A>C (p.His1933Pro) c.5867A>C (p.His1956Pro) c.5495A>C (p.His1832Pro) c.5651A>C (p.His1884Pro) c.5858A>C (p.His1953Pro) c.5159A>C (p.His1720Pro) c.5906A>C (p.His1969Pro) | |
16 | g.3729146_3729148dup | CA2631403552 | CREBBP | c.5910_5912dup (p.Gln1970_His1971insGln) c.5796_5798dup (p.Gln1932_His1933insGln) c.5865_5867dup (p.Gln1955_His1956insGln) c.5493_5495dup (p.Gln1831_His1832insGln) c.5649_5651dup (p.Gln1883_His1884insGln) c.5856_5858dup (p.Gln1952_His1953insGln) c.5157_5159dup (p.Gln1719_His1720insGln) c.5904_5906dup (p.Gln1968_His1969insGln) | gnomAD v4 |
16 | g.3729146_3729148del | CA7869228 | CREBBP | c.5910_5912del (p.Gln1970del) c.5796_5798del (p.Gln1932del) c.5865_5867del (p.Gln1955del) c.5493_5495del (p.Gln1831del) c.5649_5651del (p.Gln1883del) c.5856_5858del (p.Gln1952del) c.5157_5159del (p.Gln1719del) c.5904_5906del (p.Gln1968del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729136G>A | CA7869229 | CREBBP | c.5911C>T (p.His1971Tyr) c.5797C>T (p.His1933Tyr) c.5866C>T (p.His1956Tyr) c.5494C>T (p.His1832Tyr) c.5650C>T (p.His1884Tyr) c.5857C>T (p.His1953Tyr) c.5158C>T (p.His1720Tyr) c.5905C>T (p.His1969Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729136G>C | CA394555017 | CREBBP | c.5911C>G (p.His1971Asp) c.5797C>G (p.His1933Asp) c.5866C>G (p.His1956Asp) c.5494C>G (p.His1832Asp) c.5650C>G (p.His1884Asp) c.5857C>G (p.His1953Asp) c.5158C>G (p.His1720Asp) c.5905C>G (p.His1969Asp) | dbSNP |
16 | g.3729136G= | CA2202916247 | CREBBP | c.5911C= (p.His1971=) c.5797C= (p.His1933=) c.5866C= (p.His1956=) c.5494C= (p.His1832=) c.5650C= (p.His1884=) c.5857C= (p.His1953=) c.5158C= (p.His1720=) c.5905C= (p.His1969=) | |
16 | g.3729136G>T | CA394555018 | CREBBP | c.5911C>A (p.His1971Asn) c.5797C>A (p.His1933Asn) c.5866C>A (p.His1956Asn) c.5494C>A (p.His1832Asn) c.5650C>A (p.His1884Asn) c.5857C>A (p.His1953Asn) c.5158C>A (p.His1720Asn) c.5905C>A (p.His1969Asn) | gnomAD v4 |
16 | g.3729137C>A | CA7869230 | CREBBP | c.5910G>T (p.Gln1970His) c.5796G>T (p.Gln1932His) c.5865G>T (p.Gln1955His) c.5493G>T (p.Gln1831His) c.5649G>T (p.Gln1883His) c.5856G>T (p.Gln1952His) c.5157G>T (p.Gln1719His) c.5904G>T (p.Gln1968His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729137C= | CA2202916248 | CREBBP | c.5910G= (p.Gln1970=) c.5796G= (p.Gln1932=) c.5865G= (p.Gln1955=) c.5493G= (p.Gln1831=) c.5649G= (p.Gln1883=) c.5856G= (p.Gln1952=) c.5157G= (p.Gln1719=) c.5904G= (p.Gln1968=) | |
16 | g.3729137C>G | CA394555019 | CREBBP | c.5910G>C (p.Gln1970His) c.5796G>C (p.Gln1932His) c.5865G>C (p.Gln1955His) c.5493G>C (p.Gln1831His) c.5649G>C (p.Gln1883His) c.5856G>C (p.Gln1952His) c.5157G>C (p.Gln1719His) c.5904G>C (p.Gln1968His) | dbSNP gnomAD v4 |
16 | g.3729137C>T | CA493394350 | CREBBP | c.5910G>A (p.Gln1970=) c.5796G>A (p.Gln1932=) c.5865G>A (p.Gln1955=) c.5493G>A (p.Gln1831=) c.5649G>A (p.Gln1883=) c.5856G>A (p.Gln1952=) c.5157G>A (p.Gln1719=) c.5904G>A (p.Gln1968=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729138T>A | CA394555022 | CREBBP | c.5909A>T (p.Gln1970Leu) c.5795A>T (p.Gln1932Leu) c.5864A>T (p.Gln1955Leu) c.5492A>T (p.Gln1831Leu) c.5648A>T (p.Gln1883Leu) c.5855A>T (p.Gln1952Leu) c.5156A>T (p.Gln1719Leu) c.5903A>T (p.Gln1968Leu) | dbSNP |
16 | g.3729138T>C | CA394555021 | CREBBP | c.5909A>G (p.Gln1970Arg) c.5795A>G (p.Gln1932Arg) c.5864A>G (p.Gln1955Arg) c.5492A>G (p.Gln1831Arg) c.5648A>G (p.Gln1883Arg) c.5855A>G (p.Gln1952Arg) c.5156A>G (p.Gln1719Arg) c.5903A>G (p.Gln1968Arg) | dbSNP gnomAD v4 |
16 | g.3729138T>G | CA394555020 | CREBBP | c.5909A>C (p.Gln1970Pro) c.5795A>C (p.Gln1932Pro) c.5864A>C (p.Gln1955Pro) c.5492A>C (p.Gln1831Pro) c.5648A>C (p.Gln1883Pro) c.5855A>C (p.Gln1952Pro) c.5156A>C (p.Gln1719Pro) c.5903A>C (p.Gln1968Pro) | |
16 | g.3729139G>A | CA394555023 | CREBBP | c.5908C>T (p.Gln1970Ter) c.5794C>T (p.Gln1932Ter) c.5863C>T (p.Gln1955Ter) c.5491C>T (p.Gln1831Ter) c.5647C>T (p.Gln1883Ter) c.5854C>T (p.Gln1952Ter) c.5155C>T (p.Gln1719Ter) c.5902C>T (p.Gln1968Ter) | dbSNP gnomAD v4 |
16 | g.3729139G>C | CA394555024 | CREBBP | c.5908C>G (p.Gln1970Glu) c.5794C>G (p.Gln1932Glu) c.5863C>G (p.Gln1955Glu) c.5491C>G (p.Gln1831Glu) c.5647C>G (p.Gln1883Glu) c.5854C>G (p.Gln1952Glu) c.5155C>G (p.Gln1719Glu) c.5902C>G (p.Gln1968Glu) | ClinVar dbSNP |
16 | g.3729139G>T | CA394555025 | CREBBP | c.5908C>A (p.Gln1970Lys) c.5794C>A (p.Gln1932Lys) c.5863C>A (p.Gln1955Lys) c.5491C>A (p.Gln1831Lys) c.5647C>A (p.Gln1883Lys) c.5854C>A (p.Gln1952Lys) c.5155C>A (p.Gln1719Lys) c.5902C>A (p.Gln1968Lys) | gnomAD v4 |
16 | g.3729140C>A | CA394555026 | CREBBP | c.5907G>T (p.Gln1969His) c.5793G>T (p.Gln1931His) c.5862G>T (p.Gln1954His) c.5490G>T (p.Gln1830His) c.5646G>T (p.Gln1882His) c.5853G>T (p.Gln1951His) c.5154G>T (p.Gln1718His) c.5901G>T (p.Gln1967His) | dbSNP gnomAD v4 |
16 | g.3729140C>G | CA394555027 | CREBBP | c.5907G>C (p.Gln1969His) c.5793G>C (p.Gln1931His) c.5862G>C (p.Gln1954His) c.5490G>C (p.Gln1830His) c.5646G>C (p.Gln1882His) c.5853G>C (p.Gln1951His) c.5154G>C (p.Gln1718His) c.5901G>C (p.Gln1967His) | dbSNP |
16 | g.3729140C>T | CA493394354 | CREBBP | c.5907G>A (p.Gln1969=) c.5793G>A (p.Gln1931=) c.5862G>A (p.Gln1954=) c.5490G>A (p.Gln1830=) c.5646G>A (p.Gln1882=) c.5853G>A (p.Gln1951=) c.5154G>A (p.Gln1718=) c.5901G>A (p.Gln1967=) | dbSNP gnomAD v4 |
16 | g.3729141T>A | CA394555028 | CREBBP | c.5906A>T (p.Gln1969Leu) c.5792A>T (p.Gln1931Leu) c.5861A>T (p.Gln1954Leu) c.5489A>T (p.Gln1830Leu) c.5645A>T (p.Gln1882Leu) c.5852A>T (p.Gln1951Leu) c.5153A>T (p.Gln1718Leu) c.5900A>T (p.Gln1967Leu) | |
16 | g.3729141T>C | CA394555029 | CREBBP | c.5906A>G (p.Gln1969Arg) c.5792A>G (p.Gln1931Arg) c.5861A>G (p.Gln1954Arg) c.5489A>G (p.Gln1830Arg) c.5645A>G (p.Gln1882Arg) c.5852A>G (p.Gln1951Arg) c.5153A>G (p.Gln1718Arg) c.5900A>G (p.Gln1967Arg) | |
16 | g.3729141T>G | CA394555030 | CREBBP | c.5906A>C (p.Gln1969Pro) c.5792A>C (p.Gln1931Pro) c.5861A>C (p.Gln1954Pro) c.5489A>C (p.Gln1830Pro) c.5645A>C (p.Gln1882Pro) c.5852A>C (p.Gln1951Pro) c.5153A>C (p.Gln1718Pro) c.5900A>C (p.Gln1967Pro) | |
16 | g.3729142G>A | CA394555031 | CREBBP | c.5905C>T (p.Gln1969Ter) c.5791C>T (p.Gln1931Ter) c.5860C>T (p.Gln1954Ter) c.5488C>T (p.Gln1830Ter) c.5644C>T (p.Gln1882Ter) c.5851C>T (p.Gln1951Ter) c.5152C>T (p.Gln1718Ter) c.5899C>T (p.Gln1967Ter) | ClinVar dbSNP |
16 | g.3729142G>C | CA394555032 | CREBBP | c.5905C>G (p.Gln1969Glu) c.5791C>G (p.Gln1931Glu) c.5860C>G (p.Gln1954Glu) c.5488C>G (p.Gln1830Glu) c.5644C>G (p.Gln1882Glu) c.5851C>G (p.Gln1951Glu) c.5152C>G (p.Gln1718Glu) c.5899C>G (p.Gln1967Glu) | dbSNP |
16 | g.3729142G= | CA2202916249 | CREBBP | c.5905C= (p.Gln1969=) c.5791C= (p.Gln1931=) c.5860C= (p.Gln1954=) c.5488C= (p.Gln1830=) c.5644C= (p.Gln1882=) c.5851C= (p.Gln1951=) c.5152C= (p.Gln1718=) c.5899C= (p.Gln1967=) | |
16 | g.3729142G>T | CA394555033 | CREBBP | c.5905C>A (p.Gln1969Lys) c.5791C>A (p.Gln1931Lys) c.5860C>A (p.Gln1954Lys) c.5488C>A (p.Gln1830Lys) c.5644C>A (p.Gln1882Lys) c.5851C>A (p.Gln1951Lys) c.5152C>A (p.Gln1718Lys) c.5899C>A (p.Gln1967Lys) | gnomAD v4 |
16 | g.3729143C>A | CA394555034 | CREBBP | c.5904G>T (p.Gln1968His) c.5790G>T (p.Gln1930His) c.5859G>T (p.Gln1953His) c.5487G>T (p.Gln1829His) c.5643G>T (p.Gln1881His) c.5850G>T (p.Gln1950His) c.5151G>T (p.Gln1717His) c.5898G>T (p.Gln1966His) | gnomAD v4 |
16 | g.3729143C= | CA2202916250 | CREBBP | c.5904G= (p.Gln1968=) c.5790G= (p.Gln1930=) c.5859G= (p.Gln1953=) c.5487G= (p.Gln1829=) c.5643G= (p.Gln1881=) c.5850G= (p.Gln1950=) c.5151G= (p.Gln1717=) c.5898G= (p.Gln1966=) | |
16 | g.3729143C>G | CA394555035 | CREBBP | c.5904G>C (p.Gln1968His) c.5790G>C (p.Gln1930His) c.5859G>C (p.Gln1953His) c.5487G>C (p.Gln1829His) c.5643G>C (p.Gln1881His) c.5850G>C (p.Gln1950His) c.5151G>C (p.Gln1717His) c.5898G>C (p.Gln1966His) | dbSNP |
16 | g.3729143C>T | CA493394356 | CREBBP | c.5904G>A (p.Gln1968=) c.5790G>A (p.Gln1930=) c.5859G>A (p.Gln1953=) c.5487G>A (p.Gln1829=) c.5643G>A (p.Gln1881=) c.5850G>A (p.Gln1950=) c.5151G>A (p.Gln1717=) c.5898G>A (p.Gln1966=) | dbSNP gnomAD v4 |
16 | g.3729144T>A | CA394555037 | CREBBP | c.5903A>T (p.Gln1968Leu) c.5789A>T (p.Gln1930Leu) c.5858A>T (p.Gln1953Leu) c.5486A>T (p.Gln1829Leu) c.5642A>T (p.Gln1881Leu) c.5849A>T (p.Gln1950Leu) c.5150A>T (p.Gln1717Leu) c.5897A>T (p.Gln1966Leu) | |
16 | g.3729144T>C | CA394555038 | CREBBP | c.5903A>G (p.Gln1968Arg) c.5789A>G (p.Gln1930Arg) c.5858A>G (p.Gln1953Arg) c.5486A>G (p.Gln1829Arg) c.5642A>G (p.Gln1881Arg) c.5849A>G (p.Gln1950Arg) c.5150A>G (p.Gln1717Arg) c.5897A>G (p.Gln1966Arg) | gnomAD v4 |
16 | g.3729144T>G | CA394555036 | CREBBP | c.5903A>C (p.Gln1968Pro) c.5789A>C (p.Gln1930Pro) c.5858A>C (p.Gln1953Pro) c.5486A>C (p.Gln1829Pro) c.5642A>C (p.Gln1881Pro) c.5849A>C (p.Gln1950Pro) c.5150A>C (p.Gln1717Pro) c.5897A>C (p.Gln1966Pro) | |
16 | g.3729145G>A | CA394555039 | CREBBP | c.5902C>T (p.Gln1968Ter) c.5788C>T (p.Gln1930Ter) c.5857C>T (p.Gln1953Ter) c.5485C>T (p.Gln1829Ter) c.5641C>T (p.Gln1881Ter) c.5848C>T (p.Gln1950Ter) c.5149C>T (p.Gln1717Ter) c.5896C>T (p.Gln1966Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.3729145G>C | CA394555040 | CREBBP | c.5902C>G (p.Gln1968Glu) c.5788C>G (p.Gln1930Glu) c.5857C>G (p.Gln1953Glu) c.5485C>G (p.Gln1829Glu) c.5641C>G (p.Gln1881Glu) c.5848C>G (p.Gln1950Glu) c.5149C>G (p.Gln1717Glu) c.5896C>G (p.Gln1966Glu) | dbSNP |
16 | g.3729145G>T | CA394555041 | CREBBP | c.5902C>A (p.Gln1968Lys) c.5788C>A (p.Gln1930Lys) c.5857C>A (p.Gln1953Lys) c.5485C>A (p.Gln1829Lys) c.5641C>A (p.Gln1881Lys) c.5848C>A (p.Gln1950Lys) c.5149C>A (p.Gln1717Lys) c.5896C>A (p.Gln1966Lys) | gnomAD v4 |
16 | g.3729146C>A | CA394555042 | CREBBP | c.5901G>T (p.Gln1967His) c.5787G>T (p.Gln1929His) c.5856G>T (p.Gln1952His) c.5484G>T (p.Gln1828His) c.5640G>T (p.Gln1880His) c.5847G>T (p.Gln1949His) c.5148G>T (p.Gln1716His) c.5895G>T (p.Gln1965His) | dbSNP gnomAD v4 |
16 | g.3729146C>G | CA394555043 | CREBBP | c.5901G>C (p.Gln1967His) c.5787G>C (p.Gln1929His) c.5856G>C (p.Gln1952His) c.5484G>C (p.Gln1828His) c.5640G>C (p.Gln1880His) c.5847G>C (p.Gln1949His) c.5148G>C (p.Gln1716His) c.5895G>C (p.Gln1965His) | dbSNP |
16 | g.3729146C>T | CA493394359 | CREBBP | c.5901G>A (p.Gln1967=) c.5787G>A (p.Gln1929=) c.5856G>A (p.Gln1952=) c.5484G>A (p.Gln1828=) c.5640G>A (p.Gln1880=) c.5847G>A (p.Gln1949=) c.5148G>A (p.Gln1716=) c.5895G>A (p.Gln1965=) | dbSNP gnomAD v4 |
16 | g.3729146_3729147delinsCT | CA2202916251 | CREBBP | c.5900_5901delinsAG (p.Gln1967=) c.5786_5787delinsAG (p.Gln1929=) c.5855_5856delinsAG (p.Gln1952=) c.5483_5484delinsAG (p.Gln1828=) c.5639_5640delinsAG (p.Gln1880=) c.5846_5847delinsAG (p.Gln1949=) c.5147_5148delinsAG (p.Gln1716=) c.5894_5895delinsAG (p.Gln1965=) | |
16 | g.3729147del | CA620714449 | CREBBP | c.5900del (p.Gln1967ArgfsTer9) c.5786del (p.Gln1929ArgfsTer9) c.5855del (p.Gln1952ArgfsTer9) c.5483del (p.Gln1828ArgfsTer9) c.5639del (p.Gln1880ArgfsTer9) c.5846del (p.Gln1949ArgfsTer9) c.5147del (p.Gln1716ArgfsTer9) c.5894del (p.Gln1965ArgfsTer9) | dbSNP gnomAD v2 |
16 | g.3729147T>A | CA394555044 | CREBBP | c.5900A>T (p.Gln1967Leu) c.5786A>T (p.Gln1929Leu) c.5855A>T (p.Gln1952Leu) c.5483A>T (p.Gln1828Leu) c.5639A>T (p.Gln1880Leu) c.5846A>T (p.Gln1949Leu) c.5147A>T (p.Gln1716Leu) c.5894A>T (p.Gln1965Leu) | |
16 | g.3729147T>C | CA394555045 | CREBBP | c.5900A>G (p.Gln1967Arg) c.5786A>G (p.Gln1929Arg) c.5855A>G (p.Gln1952Arg) c.5483A>G (p.Gln1828Arg) c.5639A>G (p.Gln1880Arg) c.5846A>G (p.Gln1949Arg) c.5147A>G (p.Gln1716Arg) c.5894A>G (p.Gln1965Arg) | gnomAD v4 |
16 | g.3729147T>G | CA394555047 | CREBBP | c.5900A>C (p.Gln1967Pro) c.5786A>C (p.Gln1929Pro) c.5855A>C (p.Gln1952Pro) c.5483A>C (p.Gln1828Pro) c.5639A>C (p.Gln1880Pro) c.5846A>C (p.Gln1949Pro) c.5147A>C (p.Gln1716Pro) c.5894A>C (p.Gln1965Pro) | |
16 | g.3729148G>A | CA394555048 | CREBBP | c.5899C>T (p.Gln1967Ter) c.5785C>T (p.Gln1929Ter) c.5854C>T (p.Gln1952Ter) c.5482C>T (p.Gln1828Ter) c.5638C>T (p.Gln1880Ter) c.5845C>T (p.Gln1949Ter) c.5146C>T (p.Gln1716Ter) c.5893C>T (p.Gln1965Ter) | dbSNP gnomAD v4 |
16 | g.3729148G>C | CA394555049 | CREBBP | c.5899C>G (p.Gln1967Glu) c.5785C>G (p.Gln1929Glu) c.5854C>G (p.Gln1952Glu) c.5482C>G (p.Gln1828Glu) c.5638C>G (p.Gln1880Glu) c.5845C>G (p.Gln1949Glu) c.5146C>G (p.Gln1716Glu) c.5893C>G (p.Gln1965Glu) | dbSNP |
16 | g.3729148G= | CA2202916252 | CREBBP | c.5899C= (p.Gln1967=) c.5785C= (p.Gln1929=) c.5854C= (p.Gln1952=) c.5482C= (p.Gln1828=) c.5638C= (p.Gln1880=) c.5845C= (p.Gln1949=) c.5146C= (p.Gln1716=) c.5893C= (p.Gln1965=) | |
16 | g.3729148G>T | CA394555050 | CREBBP | c.5899C>A (p.Gln1967Lys) c.5785C>A (p.Gln1929Lys) c.5854C>A (p.Gln1952Lys) c.5482C>A (p.Gln1828Lys) c.5638C>A (p.Gln1880Lys) c.5845C>A (p.Gln1949Lys) c.5146C>A (p.Gln1716Lys) c.5893C>A (p.Gln1965Lys) | gnomAD v4 |
16 | g.3729149G>A | CA493393847 | CREBBP | c.5898C>T (p.Ala1966=) c.5784C>T (p.Ala1928=) c.5853C>T (p.Ala1951=) c.5481C>T (p.Ala1827=) c.5637C>T (p.Ala1879=) c.5844C>T (p.Ala1948=) c.5145C>T (p.Ala1715=) c.5892C>T (p.Ala1964=) | dbSNP gnomAD v4 |
16 | g.3729149G>C | CA493393850 | CREBBP | c.5898C>G (p.Ala1966=) c.5784C>G (p.Ala1928=) c.5853C>G (p.Ala1951=) c.5481C>G (p.Ala1827=) c.5637C>G (p.Ala1879=) c.5844C>G (p.Ala1948=) c.5145C>G (p.Ala1715=) c.5892C>G (p.Ala1964=) | dbSNP gnomAD v4 |
16 | g.3729149G= | CA2202916253 | CREBBP | c.5898C= (p.Ala1966=) c.5784C= (p.Ala1928=) c.5853C= (p.Ala1951=) c.5481C= (p.Ala1827=) c.5637C= (p.Ala1879=) c.5844C= (p.Ala1948=) c.5145C= (p.Ala1715=) c.5892C= (p.Ala1964=) | |
16 | g.3729149G>T | CA7869231 | CREBBP | c.5898C>A (p.Ala1966=) c.5784C>A (p.Ala1928=) c.5853C>A (p.Ala1951=) c.5481C>A (p.Ala1827=) c.5637C>A (p.Ala1879=) c.5844C>A (p.Ala1948=) c.5145C>A (p.Ala1715=) c.5892C>A (p.Ala1964=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729150G>A | CA394555053 | CREBBP | c.5897C>T (p.Ala1966Val) c.5783C>T (p.Ala1928Val) c.5852C>T (p.Ala1951Val) c.5480C>T (p.Ala1827Val) c.5636C>T (p.Ala1879Val) c.5843C>T (p.Ala1948Val) c.5144C>T (p.Ala1715Val) c.5891C>T (p.Ala1964Val) | dbSNP gnomAD v4 |
16 | g.3729150G>C | CA394555051 | CREBBP | c.5897C>G (p.Ala1966Gly) c.5783C>G (p.Ala1928Gly) c.5852C>G (p.Ala1951Gly) c.5480C>G (p.Ala1827Gly) c.5636C>G (p.Ala1879Gly) c.5843C>G (p.Ala1948Gly) c.5144C>G (p.Ala1715Gly) c.5891C>G (p.Ala1964Gly) | dbSNP |
16 | g.3729150G>T | CA394555052 | CREBBP | c.5897C>A (p.Ala1966Asp) c.5783C>A (p.Ala1928Asp) c.5852C>A (p.Ala1951Asp) c.5480C>A (p.Ala1827Asp) c.5636C>A (p.Ala1879Asp) c.5843C>A (p.Ala1948Asp) c.5144C>A (p.Ala1715Asp) c.5891C>A (p.Ala1964Asp) | dbSNP gnomAD v4 |
16 | g.3729151C>A | CA394555054 | CREBBP | c.5896G>T (p.Ala1966Ser) c.5782G>T (p.Ala1928Ser) c.5851G>T (p.Ala1951Ser) c.5479G>T (p.Ala1827Ser) c.5635G>T (p.Ala1879Ser) c.5842G>T (p.Ala1948Ser) c.5143G>T (p.Ala1715Ser) c.5890G>T (p.Ala1964Ser) | dbSNP gnomAD v4 |
16 | g.3729151C= | CA2202916254 | CREBBP | c.5896G= (p.Ala1966=) c.5782G= (p.Ala1928=) c.5851G= (p.Ala1951=) c.5479G= (p.Ala1827=) c.5635G= (p.Ala1879=) c.5842G= (p.Ala1948=) c.5143G= (p.Ala1715=) c.5890G= (p.Ala1964=) | |
16 | g.3729151C>G | CA394555055 | CREBBP | c.5896G>C (p.Ala1966Pro) c.5782G>C (p.Ala1928Pro) c.5851G>C (p.Ala1951Pro) c.5479G>C (p.Ala1827Pro) c.5635G>C (p.Ala1879Pro) c.5842G>C (p.Ala1948Pro) c.5143G>C (p.Ala1715Pro) c.5890G>C (p.Ala1964Pro) | dbSNP gnomAD v2 |
16 | g.3729151C>T | CA394555056 | CREBBP | c.5896G>A (p.Ala1966Thr) c.5782G>A (p.Ala1928Thr) c.5851G>A (p.Ala1951Thr) c.5479G>A (p.Ala1827Thr) c.5635G>A (p.Ala1879Thr) c.5842G>A (p.Ala1948Thr) c.5143G>A (p.Ala1715Thr) c.5890G>A (p.Ala1964Thr) | dbSNP gnomAD v4 |
16 | g.3729152C>A | CA394555057 | CREBBP | c.5895G>T (p.Glu1965Asp) c.5781G>T (p.Glu1927Asp) c.5850G>T (p.Glu1950Asp) c.5478G>T (p.Glu1826Asp) c.5634G>T (p.Glu1878Asp) c.5841G>T (p.Glu1947Asp) c.5142G>T (p.Glu1714Asp) c.5889G>T (p.Glu1963Asp) | dbSNP gnomAD v4 |
16 | g.3729152C>G | CA394555058 | CREBBP | c.5895G>C (p.Glu1965Asp) c.5781G>C (p.Glu1927Asp) c.5850G>C (p.Glu1950Asp) c.5478G>C (p.Glu1826Asp) c.5634G>C (p.Glu1878Asp) c.5841G>C (p.Glu1947Asp) c.5142G>C (p.Glu1714Asp) c.5889G>C (p.Glu1963Asp) | |
16 | g.3729152C>T | CA493393852 | CREBBP | c.5895G>A (p.Glu1965=) c.5781G>A (p.Glu1927=) c.5850G>A (p.Glu1950=) c.5478G>A (p.Glu1826=) c.5634G>A (p.Glu1878=) c.5841G>A (p.Glu1947=) c.5142G>A (p.Glu1714=) c.5889G>A (p.Glu1963=) | dbSNP gnomAD v4 COSMIC |
16 | g.3729153T>A | CA394555059 | CREBBP | c.5894A>T (p.Glu1965Val) c.5780A>T (p.Glu1927Val) c.5849A>T (p.Glu1950Val) c.5477A>T (p.Glu1826Val) c.5633A>T (p.Glu1878Val) c.5840A>T (p.Glu1947Val) c.5141A>T (p.Glu1714Val) c.5888A>T (p.Glu1963Val) | dbSNP gnomAD v4 |
16 | g.3729153T>C | CA394555060 | CREBBP | c.5894A>G (p.Glu1965Gly) c.5780A>G (p.Glu1927Gly) c.5849A>G (p.Glu1950Gly) c.5477A>G (p.Glu1826Gly) c.5633A>G (p.Glu1878Gly) c.5840A>G (p.Glu1947Gly) c.5141A>G (p.Glu1714Gly) c.5888A>G (p.Glu1963Gly) | dbSNP gnomAD v4 |
16 | g.3729153T>G | CA394555061 | CREBBP | c.5894A>C (p.Glu1965Ala) c.5780A>C (p.Glu1927Ala) c.5849A>C (p.Glu1950Ala) c.5477A>C (p.Glu1826Ala) c.5633A>C (p.Glu1878Ala) c.5840A>C (p.Glu1947Ala) c.5141A>C (p.Glu1714Ala) c.5888A>C (p.Glu1963Ala) | |
16 | g.3729154C>A | CA276971920 | CREBBP | c.5893G>T (p.Glu1965Ter) c.5779G>T (p.Glu1927Ter) c.5848G>T (p.Glu1950Ter) c.5476G>T (p.Glu1826Ter) c.5632G>T (p.Glu1878Ter) c.5839G>T (p.Glu1947Ter) c.5140G>T (p.Glu1714Ter) c.5887G>T (p.Glu1963Ter) | dbSNP gnomAD v4 |
16 | g.3729154C= | CA2202916255 | CREBBP | c.5893G= (p.Glu1965=) c.5779G= (p.Glu1927=) c.5848G= (p.Glu1950=) c.5476G= (p.Glu1826=) c.5632G= (p.Glu1878=) c.5839G= (p.Glu1947=) c.5140G= (p.Glu1714=) c.5887G= (p.Glu1963=) | |
16 | g.3729154C>G | CA394555062 | CREBBP | c.5893G>C (p.Glu1965Gln) c.5779G>C (p.Glu1927Gln) c.5848G>C (p.Glu1950Gln) c.5476G>C (p.Glu1826Gln) c.5632G>C (p.Glu1878Gln) c.5839G>C (p.Glu1947Gln) c.5140G>C (p.Glu1714Gln) c.5887G>C (p.Glu1963Gln) | dbSNP |
16 | g.3729154C>T | CA394555063 | CREBBP | c.5893G>A (p.Glu1965Lys) c.5779G>A (p.Glu1927Lys) c.5848G>A (p.Glu1950Lys) c.5476G>A (p.Glu1826Lys) c.5632G>A (p.Glu1878Lys) c.5839G>A (p.Glu1947Lys) c.5140G>A (p.Glu1714Lys) c.5887G>A (p.Glu1963Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729155A>C | CA493393853 | CREBBP | c.5892T>G (p.Arg1964=) c.5778T>G (p.Arg1926=) c.5847T>G (p.Arg1949=) c.5475T>G (p.Arg1825=) c.5631T>G (p.Arg1877=) c.5838T>G (p.Arg1946=) c.5139T>G (p.Arg1713=) c.5886T>G (p.Arg1962=) | dbSNP gnomAD v4 COSMIC |
16 | g.3729155A>G | CA493393854 | CREBBP | c.5892T>C (p.Arg1964=) c.5778T>C (p.Arg1926=) c.5847T>C (p.Arg1949=) c.5475T>C (p.Arg1825=) c.5631T>C (p.Arg1877=) c.5838T>C (p.Arg1946=) c.5139T>C (p.Arg1713=) c.5886T>C (p.Arg1962=) | dbSNP gnomAD v4 |
16 | g.3729155A>T | CA493393855 | CREBBP | c.5892T>A (p.Arg1964=) c.5778T>A (p.Arg1926=) c.5847T>A (p.Arg1949=) c.5475T>A (p.Arg1825=) c.5631T>A (p.Arg1877=) c.5838T>A (p.Arg1946=) c.5139T>A (p.Arg1713=) c.5886T>A (p.Arg1962=) | dbSNP |
16 | g.3729156C>A | CA394555064 | CREBBP | c.5891G>T (p.Arg1964Leu) c.5777G>T (p.Arg1926Leu) c.5846G>T (p.Arg1949Leu) c.5474G>T (p.Arg1825Leu) c.5630G>T (p.Arg1877Leu) c.5837G>T (p.Arg1946Leu) c.5138G>T (p.Arg1713Leu) c.5885G>T (p.Arg1962Leu) | ClinVar dbSNP gnomAD v4 |
16 | g.3729156C= | CA2202916256 | CREBBP | c.5891G= (p.Arg1964=) c.5777G= (p.Arg1926=) c.5846G= (p.Arg1949=) c.5474G= (p.Arg1825=) c.5630G= (p.Arg1877=) c.5837G= (p.Arg1946=) c.5138G= (p.Arg1713=) c.5885G= (p.Arg1962=) | |
16 | g.3729156C>G | CA394555065 | CREBBP | c.5891G>C (p.Arg1964Pro) c.5777G>C (p.Arg1926Pro) c.5846G>C (p.Arg1949Pro) c.5474G>C (p.Arg1825Pro) c.5630G>C (p.Arg1877Pro) c.5837G>C (p.Arg1946Pro) c.5138G>C (p.Arg1713Pro) c.5885G>C (p.Arg1962Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729156C>T | CA276971924 | CREBBP | c.5891G>A (p.Arg1964His) c.5777G>A (p.Arg1926His) c.5846G>A (p.Arg1949His) c.5474G>A (p.Arg1825His) c.5630G>A (p.Arg1877His) c.5837G>A (p.Arg1946His) c.5138G>A (p.Arg1713His) c.5885G>A (p.Arg1962His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3729157G>A | CA394555066 | CREBBP | c.5890C>T (p.Arg1964Cys) c.5776C>T (p.Arg1926Cys) c.5845C>T (p.Arg1949Cys) c.5473C>T (p.Arg1825Cys) c.5629C>T (p.Arg1877Cys) c.5836C>T (p.Arg1946Cys) c.5137C>T (p.Arg1713Cys) c.5884C>T (p.Arg1962Cys) | dbSNP gnomAD v4 |
16 | g.3729157G>C | CA394555067 | CREBBP | c.5890C>G (p.Arg1964Gly) c.5776C>G (p.Arg1926Gly) c.5845C>G (p.Arg1949Gly) c.5473C>G (p.Arg1825Gly) c.5629C>G (p.Arg1877Gly) c.5836C>G (p.Arg1946Gly) c.5137C>G (p.Arg1713Gly) c.5884C>G (p.Arg1962Gly) | dbSNP |
16 | g.3729157G= | CA2202916257 | CREBBP | c.5890C= (p.Arg1964=) c.5776C= (p.Arg1926=) c.5845C= (p.Arg1949=) c.5473C= (p.Arg1825=) c.5629C= (p.Arg1877=) c.5836C= (p.Arg1946=) c.5137C= (p.Arg1713=) c.5884C= (p.Arg1962=) | |
16 | g.3729157G>T | CA394555068 | CREBBP | c.5890C>A (p.Arg1964Ser) c.5776C>A (p.Arg1926Ser) c.5845C>A (p.Arg1949Ser) c.5473C>A (p.Arg1825Ser) c.5629C>A (p.Arg1877Ser) c.5836C>A (p.Arg1946Ser) c.5137C>A (p.Arg1713Ser) c.5884C>A (p.Arg1962Ser) | gnomAD v4 |
16 | g.3729158C>A | CA394555070 | CREBBP | c.5889G>T (p.Glu1963Asp) c.5775G>T (p.Glu1925Asp) c.5844G>T (p.Glu1948Asp) c.5472G>T (p.Glu1824Asp) c.5628G>T (p.Glu1876Asp) c.5835G>T (p.Glu1945Asp) c.5136G>T (p.Glu1712Asp) c.5883G>T (p.Glu1961Asp) | dbSNP |
16 | g.3729158C>G | CA394555072 | CREBBP | c.5889G>C (p.Glu1963Asp) c.5775G>C (p.Glu1925Asp) c.5844G>C (p.Glu1948Asp) c.5472G>C (p.Glu1824Asp) c.5628G>C (p.Glu1876Asp) c.5835G>C (p.Glu1945Asp) c.5136G>C (p.Glu1712Asp) c.5883G>C (p.Glu1961Asp) | dbSNP |
16 | g.3729158C>T | CA493393857 | CREBBP | c.5889G>A (p.Glu1963=) c.5775G>A (p.Glu1925=) c.5844G>A (p.Glu1948=) c.5472G>A (p.Glu1824=) c.5628G>A (p.Glu1876=) c.5835G>A (p.Glu1945=) c.5136G>A (p.Glu1712=) c.5883G>A (p.Glu1961=) | dbSNP gnomAD v4 |
16 | g.3729159T>A | CA394555074 | CREBBP | c.5888A>T (p.Glu1963Val) c.5774A>T (p.Glu1925Val) c.5843A>T (p.Glu1948Val) c.5471A>T (p.Glu1824Val) c.5627A>T (p.Glu1876Val) c.5834A>T (p.Glu1945Val) c.5135A>T (p.Glu1712Val) c.5882A>T (p.Glu1961Val) | dbSNP |
16 | g.3729159T>C | CA394555075 | CREBBP | c.5888A>G (p.Glu1963Gly) c.5774A>G (p.Glu1925Gly) c.5843A>G (p.Glu1948Gly) c.5471A>G (p.Glu1824Gly) c.5627A>G (p.Glu1876Gly) c.5834A>G (p.Glu1945Gly) c.5135A>G (p.Glu1712Gly) c.5882A>G (p.Glu1961Gly) | dbSNP gnomAD v4 COSMIC |
16 | g.3729159T>G | CA394555077 | CREBBP | c.5888A>C (p.Glu1963Ala) c.5774A>C (p.Glu1925Ala) c.5843A>C (p.Glu1948Ala) c.5471A>C (p.Glu1824Ala) c.5627A>C (p.Glu1876Ala) c.5834A>C (p.Glu1945Ala) c.5135A>C (p.Glu1712Ala) c.5882A>C (p.Glu1961Ala) | |
16 | g.3729160C>A | CA394555080 | CREBBP | c.5887G>T (p.Glu1963Ter) c.5773G>T (p.Glu1925Ter) c.5842G>T (p.Glu1948Ter) c.5470G>T (p.Glu1824Ter) c.5626G>T (p.Glu1876Ter) c.5833G>T (p.Glu1945Ter) c.5134G>T (p.Glu1712Ter) c.5881G>T (p.Glu1961Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729160C= | CA2202916258 | CREBBP | c.5887G= (p.Glu1963=) c.5773G= (p.Glu1925=) c.5842G= (p.Glu1948=) c.5470G= (p.Glu1824=) c.5626G= (p.Glu1876=) c.5833G= (p.Glu1945=) c.5134G= (p.Glu1712=) c.5881G= (p.Glu1961=) | |
16 | g.3729160C>G | CA394555081 | CREBBP | c.5887G>C (p.Glu1963Gln) c.5773G>C (p.Glu1925Gln) c.5842G>C (p.Glu1948Gln) c.5470G>C (p.Glu1824Gln) c.5626G>C (p.Glu1876Gln) c.5833G>C (p.Glu1945Gln) c.5134G>C (p.Glu1712Gln) c.5881G>C (p.Glu1961Gln) | dbSNP gnomAD v4 |
16 | g.3729160C>T | CA276971926 | CREBBP | c.5887G>A (p.Glu1963Lys) c.5773G>A (p.Glu1925Lys) c.5842G>A (p.Glu1948Lys) c.5470G>A (p.Glu1824Lys) c.5626G>A (p.Glu1876Lys) c.5833G>A (p.Glu1945Lys) c.5134G>A (p.Glu1712Lys) c.5881G>A (p.Glu1961Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729161G>A | CA7869232 | CREBBP | c.5886C>T (p.Ile1962=) c.5772C>T (p.Ile1924=) c.5841C>T (p.Ile1947=) c.5469C>T (p.Ile1823=) c.5625C>T (p.Ile1875=) c.5832C>T (p.Ile1944=) c.5133C>T (p.Ile1711=) c.5880C>T (p.Ile1960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729161G>C | CA394555085 | CREBBP | c.5886C>G (p.Ile1962Met) c.5772C>G (p.Ile1924Met) c.5841C>G (p.Ile1947Met) c.5469C>G (p.Ile1823Met) c.5625C>G (p.Ile1875Met) c.5832C>G (p.Ile1944Met) c.5133C>G (p.Ile1711Met) c.5880C>G (p.Ile1960Met) | dbSNP |
16 | g.3729161G= | CA2202916259 | CREBBP | c.5886C= (p.Ile1962=) c.5772C= (p.Ile1924=) c.5841C= (p.Ile1947=) c.5469C= (p.Ile1823=) c.5625C= (p.Ile1875=) c.5832C= (p.Ile1944=) c.5133C= (p.Ile1711=) c.5880C= (p.Ile1960=) | |
16 | g.3729161G>T | CA493393860 | CREBBP | c.5886C>A (p.Ile1962=) c.5772C>A (p.Ile1924=) c.5841C>A (p.Ile1947=) c.5469C>A (p.Ile1823=) c.5625C>A (p.Ile1875=) c.5832C>A (p.Ile1944=) c.5133C>A (p.Ile1711=) c.5880C>A (p.Ile1960=) | ClinVar dbSNP gnomAD v4 |
16 | g.3729162A>C | CA394555091 | CREBBP | c.5885T>G (p.Ile1962Ser) c.5771T>G (p.Ile1924Ser) c.5840T>G (p.Ile1947Ser) c.5468T>G (p.Ile1823Ser) c.5624T>G (p.Ile1875Ser) c.5831T>G (p.Ile1944Ser) c.5132T>G (p.Ile1711Ser) c.5879T>G (p.Ile1960Ser) | dbSNP |
16 | g.3729162A>G | CA394555089 | CREBBP | c.5885T>C (p.Ile1962Thr) c.5771T>C (p.Ile1924Thr) c.5840T>C (p.Ile1947Thr) c.5468T>C (p.Ile1823Thr) c.5624T>C (p.Ile1875Thr) c.5831T>C (p.Ile1944Thr) c.5132T>C (p.Ile1711Thr) c.5879T>C (p.Ile1960Thr) | dbSNP |
16 | g.3729162A>T | CA394555088 | CREBBP | c.5885T>A (p.Ile1962Asn) c.5771T>A (p.Ile1924Asn) c.5840T>A (p.Ile1947Asn) c.5468T>A (p.Ile1823Asn) c.5624T>A (p.Ile1875Asn) c.5831T>A (p.Ile1944Asn) c.5132T>A (p.Ile1711Asn) c.5879T>A (p.Ile1960Asn) | dbSNP gnomAD v4 |
16 | g.3729163T>A | CA394555093 | CREBBP | c.5884A>T (p.Ile1962Phe) c.5770A>T (p.Ile1924Phe) c.5839A>T (p.Ile1947Phe) c.5467A>T (p.Ile1823Phe) c.5623A>T (p.Ile1875Phe) c.5830A>T (p.Ile1944Phe) c.5131A>T (p.Ile1711Phe) c.5878A>T (p.Ile1960Phe) | dbSNP gnomAD v4 |
16 | g.3729163T>C | CA394555095 | CREBBP | c.5884A>G (p.Ile1962Val) c.5770A>G (p.Ile1924Val) c.5839A>G (p.Ile1947Val) c.5467A>G (p.Ile1823Val) c.5623A>G (p.Ile1875Val) c.5830A>G (p.Ile1944Val) c.5131A>G (p.Ile1711Val) c.5878A>G (p.Ile1960Val) | dbSNP gnomAD v4 |
16 | g.3729163T>G | CA394555097 | CREBBP | c.5884A>C (p.Ile1962Leu) c.5770A>C (p.Ile1924Leu) c.5839A>C (p.Ile1947Leu) c.5467A>C (p.Ile1823Leu) c.5623A>C (p.Ile1875Leu) c.5830A>C (p.Ile1944Leu) c.5131A>C (p.Ile1711Leu) c.5878A>C (p.Ile1960Leu) | dbSNP |
16 | g.3729164C>A | CA394555099 | CREBBP | c.5883G>T (p.Gln1961His) c.5769G>T (p.Gln1923His) c.5838G>T (p.Gln1946His) c.5466G>T (p.Gln1822His) c.5622G>T (p.Gln1874His) c.5829G>T (p.Gln1943His) c.5130G>T (p.Gln1710His) c.5877G>T (p.Gln1959His) | dbSNP gnomAD v4 |
16 | g.3729164C= | CA2202916260 | CREBBP | c.5883G= (p.Gln1961=) c.5769G= (p.Gln1923=) c.5838G= (p.Gln1946=) c.5466G= (p.Gln1822=) c.5622G= (p.Gln1874=) c.5829G= (p.Gln1943=) c.5130G= (p.Gln1710=) c.5877G= (p.Gln1959=) | |
16 | g.3729164C>G | CA394555101 | CREBBP | c.5883G>C (p.Gln1961His) c.5769G>C (p.Gln1923His) c.5838G>C (p.Gln1946His) c.5466G>C (p.Gln1822His) c.5622G>C (p.Gln1874His) c.5829G>C (p.Gln1943His) c.5130G>C (p.Gln1710His) c.5877G>C (p.Gln1959His) | dbSNP |
16 | g.3729164C>T | CA493393861 | CREBBP | c.5883G>A (p.Gln1961=) c.5769G>A (p.Gln1923=) c.5838G>A (p.Gln1946=) c.5466G>A (p.Gln1822=) c.5622G>A (p.Gln1874=) c.5829G>A (p.Gln1943=) c.5130G>A (p.Gln1710=) c.5877G>A (p.Gln1959=) | dbSNP gnomAD v4 |
16 | g.3729165T>A | CA394555103 | CREBBP | c.5882A>T (p.Gln1961Leu) c.5768A>T (p.Gln1923Leu) c.5837A>T (p.Gln1946Leu) c.5465A>T (p.Gln1822Leu) c.5621A>T (p.Gln1874Leu) c.5828A>T (p.Gln1943Leu) c.5129A>T (p.Gln1710Leu) c.5876A>T (p.Gln1959Leu) | dbSNP |
16 | g.3729165T>C | CA394555104 | CREBBP | c.5882A>G (p.Gln1961Arg) c.5768A>G (p.Gln1923Arg) c.5837A>G (p.Gln1946Arg) c.5465A>G (p.Gln1822Arg) c.5621A>G (p.Gln1874Arg) c.5828A>G (p.Gln1943Arg) c.5129A>G (p.Gln1710Arg) c.5876A>G (p.Gln1959Arg) | dbSNP |
16 | g.3729165T>G | CA394555106 | CREBBP | c.5882A>C (p.Gln1961Pro) c.5768A>C (p.Gln1923Pro) c.5837A>C (p.Gln1946Pro) c.5465A>C (p.Gln1822Pro) c.5621A>C (p.Gln1874Pro) c.5828A>C (p.Gln1943Pro) c.5129A>C (p.Gln1710Pro) c.5876A>C (p.Gln1959Pro) | |
16 | g.3729166G>A | CA394555108 | CREBBP | c.5881C>T (p.Gln1961Ter) c.5767C>T (p.Gln1923Ter) c.5836C>T (p.Gln1946Ter) c.5464C>T (p.Gln1822Ter) c.5620C>T (p.Gln1874Ter) c.5827C>T (p.Gln1943Ter) c.5128C>T (p.Gln1710Ter) c.5875C>T (p.Gln1959Ter) | dbSNP gnomAD v4 |
16 | g.3729166G>C | CA394555110 | CREBBP | c.5881C>G (p.Gln1961Glu) c.5767C>G (p.Gln1923Glu) c.5836C>G (p.Gln1946Glu) c.5464C>G (p.Gln1822Glu) c.5620C>G (p.Gln1874Glu) c.5827C>G (p.Gln1943Glu) c.5128C>G (p.Gln1710Glu) c.5875C>G (p.Gln1959Glu) | dbSNP |
16 | g.3729166G>T | CA394555111 | CREBBP | c.5881C>A (p.Gln1961Lys) c.5767C>A (p.Gln1923Lys) c.5836C>A (p.Gln1946Lys) c.5464C>A (p.Gln1822Lys) c.5620C>A (p.Gln1874Lys) c.5827C>A (p.Gln1943Lys) c.5128C>A (p.Gln1710Lys) c.5875C>A (p.Gln1959Lys) | gnomAD v4 |
16 | g.3729170_3729174del | CA2695222622 | CREBBP | c.5877_5881del (p.Arg1960AspfsTer4) c.5763_5767del (p.Arg1922AspfsTer4) c.5832_5836del (p.Arg1945AspfsTer4) c.5460_5464del (p.Arg1821AspfsTer4) c.5616_5620del (p.Arg1873AspfsTer4) c.5823_5827del (p.Arg1942AspfsTer4) c.5124_5128del (p.Arg1709AspfsTer4) c.5871_5875del (p.Arg1958AspfsTer4) | |
16 | g.3729167C>A | CA493393862 | CREBBP | c.5880G>T (p.Arg1960=) c.5766G>T (p.Arg1922=) c.5835G>T (p.Arg1945=) c.5463G>T (p.Arg1821=) c.5619G>T (p.Arg1873=) c.5826G>T (p.Arg1942=) c.5127G>T (p.Arg1709=) c.5874G>T (p.Arg1958=) | dbSNP gnomAD v4 |
16 | g.3729167C= | CA2202916261 | CREBBP | c.5880G= (p.Arg1960=) c.5766G= (p.Arg1922=) c.5835G= (p.Arg1945=) c.5463G= (p.Arg1821=) c.5619G= (p.Arg1873=) c.5826G= (p.Arg1942=) c.5127G= (p.Arg1709=) c.5874G= (p.Arg1958=) | |
16 | g.3729167C>G | CA493393863 | CREBBP | c.5880G>C (p.Arg1960=) c.5766G>C (p.Arg1922=) c.5835G>C (p.Arg1945=) c.5463G>C (p.Arg1821=) c.5619G>C (p.Arg1873=) c.5826G>C (p.Arg1942=) c.5127G>C (p.Arg1709=) c.5874G>C (p.Arg1958=) | dbSNP |
16 | g.3729167C>T | CA276971935 | CREBBP | c.5880G>A (p.Arg1960=) c.5766G>A (p.Arg1922=) c.5835G>A (p.Arg1945=) c.5463G>A (p.Arg1821=) c.5619G>A (p.Arg1873=) c.5826G>A (p.Arg1942=) c.5127G>A (p.Arg1709=) c.5874G>A (p.Arg1958=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729168C>A | CA394555112 | CREBBP | c.5879G>T (p.Arg1960Leu) c.5765G>T (p.Arg1922Leu) c.5834G>T (p.Arg1945Leu) c.5462G>T (p.Arg1821Leu) c.5618G>T (p.Arg1873Leu) c.5825G>T (p.Arg1942Leu) c.5126G>T (p.Arg1709Leu) c.5873G>T (p.Arg1958Leu) | dbSNP gnomAD v4 |
16 | g.3729168C= | CA2202916262 | CREBBP | c.5879G= (p.Arg1960=) c.5765G= (p.Arg1922=) c.5834G= (p.Arg1945=) c.5462G= (p.Arg1821=) c.5618G= (p.Arg1873=) c.5825G= (p.Arg1942=) c.5126G= (p.Arg1709=) c.5873G= (p.Arg1958=) | |
16 | g.3729168C>G | CA394555114 | CREBBP | c.5879G>C (p.Arg1960Pro) c.5765G>C (p.Arg1922Pro) c.5834G>C (p.Arg1945Pro) c.5462G>C (p.Arg1821Pro) c.5618G>C (p.Arg1873Pro) c.5825G>C (p.Arg1942Pro) c.5126G>C (p.Arg1709Pro) c.5873G>C (p.Arg1958Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729168C>T | CA7869233 | CREBBP | c.5879G>A (p.Arg1960Gln) c.5765G>A (p.Arg1922Gln) c.5834G>A (p.Arg1945Gln) c.5462G>A (p.Arg1821Gln) c.5618G>A (p.Arg1873Gln) c.5825G>A (p.Arg1942Gln) c.5126G>A (p.Arg1709Gln) c.5873G>A (p.Arg1958Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3729169G>A | CA394555117 | CREBBP | c.5878C>T (p.Arg1960Trp) c.5764C>T (p.Arg1922Trp) c.5833C>T (p.Arg1945Trp) c.5461C>T (p.Arg1821Trp) c.5617C>T (p.Arg1873Trp) c.5824C>T (p.Arg1942Trp) c.5125C>T (p.Arg1709Trp) c.5872C>T (p.Arg1958Trp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729169G>C | CA394555119 | CREBBP | c.5878C>G (p.Arg1960Gly) c.5764C>G (p.Arg1922Gly) c.5833C>G (p.Arg1945Gly) c.5461C>G (p.Arg1821Gly) c.5617C>G (p.Arg1873Gly) c.5824C>G (p.Arg1942Gly) c.5125C>G (p.Arg1709Gly) c.5872C>G (p.Arg1958Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729169G= | CA2202916263 | CREBBP | c.5878C= (p.Arg1960=) c.5764C= (p.Arg1922=) c.5833C= (p.Arg1945=) c.5461C= (p.Arg1821=) c.5617C= (p.Arg1873=) c.5824C= (p.Arg1942=) c.5125C= (p.Arg1709=) c.5872C= (p.Arg1958=) | |
16 | g.3729169G>T | CA7869234 | CREBBP | c.5878C>A (p.Arg1960=) c.5764C>A (p.Arg1922=) c.5833C>A (p.Arg1945=) c.5461C>A (p.Arg1821=) c.5617C>A (p.Arg1873=) c.5824C>A (p.Arg1942=) c.5125C>A (p.Arg1709=) c.5872C>A (p.Arg1958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729170A= | CA2202916264 | CREBBP | c.5877T= (p.Ala1959=) c.5763T= (p.Ala1921=) c.5832T= (p.Ala1944=) c.5460T= (p.Ala1820=) c.5616T= (p.Ala1872=) c.5823T= (p.Ala1941=) c.5124T= (p.Ala1708=) c.5871T= (p.Ala1957=) | |
16 | g.3729170A>C | CA493393865 | CREBBP | c.5877T>G (p.Ala1959=) c.5763T>G (p.Ala1921=) c.5832T>G (p.Ala1944=) c.5460T>G (p.Ala1820=) c.5616T>G (p.Ala1872=) c.5823T>G (p.Ala1941=) c.5124T>G (p.Ala1708=) c.5871T>G (p.Ala1957=) | dbSNP |
16 | g.3729170A>G | CA493393866 | CREBBP | c.5877T>C (p.Ala1959=) c.5763T>C (p.Ala1921=) c.5832T>C (p.Ala1944=) c.5460T>C (p.Ala1820=) c.5616T>C (p.Ala1872=) c.5823T>C (p.Ala1941=) c.5124T>C (p.Ala1708=) c.5871T>C (p.Ala1957=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729170A>T | CA493393867 | CREBBP | c.5877T>A (p.Ala1959=) c.5763T>A (p.Ala1921=) c.5832T>A (p.Ala1944=) c.5460T>A (p.Ala1820=) c.5616T>A (p.Ala1872=) c.5823T>A (p.Ala1941=) c.5124T>A (p.Ala1708=) c.5871T>A (p.Ala1957=) | dbSNP |
16 | g.3729171G>A | CA394555120 | CREBBP | c.5876C>T (p.Ala1959Val) c.5762C>T (p.Ala1921Val) c.5831C>T (p.Ala1944Val) c.5459C>T (p.Ala1820Val) c.5615C>T (p.Ala1872Val) c.5822C>T (p.Ala1941Val) c.5123C>T (p.Ala1708Val) c.5870C>T (p.Ala1957Val) | dbSNP gnomAD v4 |
16 | g.3729171G>C | CA394555122 | CREBBP | c.5876C>G (p.Ala1959Gly) c.5762C>G (p.Ala1921Gly) c.5831C>G (p.Ala1944Gly) c.5459C>G (p.Ala1820Gly) c.5615C>G (p.Ala1872Gly) c.5822C>G (p.Ala1941Gly) c.5123C>G (p.Ala1708Gly) c.5870C>G (p.Ala1957Gly) | |
16 | g.3729171G>T | CA394555124 | CREBBP | c.5876C>A (p.Ala1959Asp) c.5762C>A (p.Ala1921Asp) c.5831C>A (p.Ala1944Asp) c.5459C>A (p.Ala1820Asp) c.5615C>A (p.Ala1872Asp) c.5822C>A (p.Ala1941Asp) c.5123C>A (p.Ala1708Asp) c.5870C>A (p.Ala1957Asp) | gnomAD v4 |
16 | g.3729172C>A | CA394555126 | CREBBP | c.5875G>T (p.Ala1959Ser) c.5761G>T (p.Ala1921Ser) c.5830G>T (p.Ala1944Ser) c.5458G>T (p.Ala1820Ser) c.5614G>T (p.Ala1872Ser) c.5821G>T (p.Ala1941Ser) c.5122G>T (p.Ala1708Ser) c.5869G>T (p.Ala1957Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3729172C>G | CA394555128 | CREBBP | c.5875G>C (p.Ala1959Pro) c.5761G>C (p.Ala1921Pro) c.5830G>C (p.Ala1944Pro) c.5458G>C (p.Ala1820Pro) c.5614G>C (p.Ala1872Pro) c.5821G>C (p.Ala1941Pro) c.5122G>C (p.Ala1708Pro) c.5869G>C (p.Ala1957Pro) | dbSNP |
16 | g.3729172C>T | CA394555129 | CREBBP | c.5875G>A (p.Ala1959Thr) c.5761G>A (p.Ala1921Thr) c.5830G>A (p.Ala1944Thr) c.5458G>A (p.Ala1820Thr) c.5614G>A (p.Ala1872Thr) c.5821G>A (p.Ala1941Thr) c.5122G>A (p.Ala1708Thr) c.5869G>A (p.Ala1957Thr) | dbSNP gnomAD v4 |
16 | g.3729173C>A | CA493393868 | CREBBP | c.5874G>T (p.Ala1958=) c.5760G>T (p.Ala1920=) c.5829G>T (p.Ala1943=) c.5457G>T (p.Ala1819=) c.5613G>T (p.Ala1871=) c.5820G>T (p.Ala1940=) c.5121G>T (p.Ala1707=) c.5868G>T (p.Ala1956=) | gnomAD v4 |
16 | g.3729173C= | CA2202916265 | CREBBP | c.5874G= (p.Ala1958=) c.5760G= (p.Ala1920=) c.5829G= (p.Ala1943=) c.5457G= (p.Ala1819=) c.5613G= (p.Ala1871=) c.5820G= (p.Ala1940=) c.5121G= (p.Ala1707=) c.5868G= (p.Ala1956=) | |
16 | g.3729173C>G | CA7869235 | CREBBP | c.5874G>C (p.Ala1958=) c.5760G>C (p.Ala1920=) c.5829G>C (p.Ala1943=) c.5457G>C (p.Ala1819=) c.5613G>C (p.Ala1871=) c.5820G>C (p.Ala1940=) c.5121G>C (p.Ala1707=) c.5868G>C (p.Ala1956=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729173C>T | CA276971948 | CREBBP | c.5874G>A (p.Ala1958=) c.5760G>A (p.Ala1920=) c.5829G>A (p.Ala1943=) c.5457G>A (p.Ala1819=) c.5613G>A (p.Ala1871=) c.5820G>A (p.Ala1940=) c.5121G>A (p.Ala1707=) c.5868G>A (p.Ala1956=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729174G>A | CA276971959 | CREBBP | c.5873C>T (p.Ala1958Val) c.5759C>T (p.Ala1920Val) c.5828C>T (p.Ala1943Val) c.5456C>T (p.Ala1819Val) c.5612C>T (p.Ala1871Val) c.5819C>T (p.Ala1940Val) c.5120C>T (p.Ala1707Val) c.5867C>T (p.Ala1956Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729174G>C | CA394555134 | CREBBP | c.5873C>G (p.Ala1958Gly) c.5759C>G (p.Ala1920Gly) c.5828C>G (p.Ala1943Gly) c.5456C>G (p.Ala1819Gly) c.5612C>G (p.Ala1871Gly) c.5819C>G (p.Ala1940Gly) c.5120C>G (p.Ala1707Gly) c.5867C>G (p.Ala1956Gly) | dbSNP gnomAD v4 |
16 | g.3729174G= | CA2202916266 | CREBBP | c.5873C= (p.Ala1958=) c.5759C= (p.Ala1920=) c.5828C= (p.Ala1943=) c.5456C= (p.Ala1819=) c.5612C= (p.Ala1871=) c.5819C= (p.Ala1940=) c.5120C= (p.Ala1707=) c.5867C= (p.Ala1956=) | |
16 | g.3729174G>T | CA394555136 | CREBBP | c.5873C>A (p.Ala1958Glu) c.5759C>A (p.Ala1920Glu) c.5828C>A (p.Ala1943Glu) c.5456C>A (p.Ala1819Glu) c.5612C>A (p.Ala1871Glu) c.5819C>A (p.Ala1940Glu) c.5120C>A (p.Ala1707Glu) c.5867C>A (p.Ala1956Glu) | dbSNP gnomAD v4 |
16 | g.3729175C>A | CA394555138 | CREBBP | c.5872G>T (p.Ala1958Ser) c.5758G>T (p.Ala1920Ser) c.5827G>T (p.Ala1943Ser) c.5455G>T (p.Ala1819Ser) c.5611G>T (p.Ala1871Ser) c.5818G>T (p.Ala1940Ser) c.5119G>T (p.Ala1707Ser) c.5866G>T (p.Ala1956Ser) | |
16 | g.3729175C>G | CA394555140 | CREBBP | c.5872G>C (p.Ala1958Pro) c.5758G>C (p.Ala1920Pro) c.5827G>C (p.Ala1943Pro) c.5455G>C (p.Ala1819Pro) c.5611G>C (p.Ala1871Pro) c.5818G>C (p.Ala1940Pro) c.5119G>C (p.Ala1707Pro) c.5866G>C (p.Ala1956Pro) | dbSNP |
16 | g.3729175C>T | CA394555142 | CREBBP | c.5872G>A (p.Ala1958Thr) c.5758G>A (p.Ala1920Thr) c.5827G>A (p.Ala1943Thr) c.5455G>A (p.Ala1819Thr) c.5611G>A (p.Ala1871Thr) c.5818G>A (p.Ala1940Thr) c.5119G>A (p.Ala1707Thr) c.5866G>A (p.Ala1956Thr) | dbSNP |
16 | g.3729176T>A | CA394555146 | CREBBP | c.5871A>T (p.Glu1957Asp) c.5757A>T (p.Glu1919Asp) c.5826A>T (p.Glu1942Asp) c.5454A>T (p.Glu1818Asp) c.5610A>T (p.Glu1870Asp) c.5817A>T (p.Glu1939Asp) c.5118A>T (p.Glu1706Asp) c.5865A>T (p.Glu1955Asp) | dbSNP |
16 | g.3729176T>C | CA493393869 | CREBBP | c.5871A>G (p.Glu1957=) c.5757A>G (p.Glu1919=) c.5826A>G (p.Glu1942=) c.5454A>G (p.Glu1818=) c.5610A>G (p.Glu1870=) c.5817A>G (p.Glu1939=) c.5118A>G (p.Glu1706=) c.5865A>G (p.Glu1955=) | dbSNP |
16 | g.3729176T>G | CA394555144 | CREBBP | c.5871A>C (p.Glu1957Asp) c.5757A>C (p.Glu1919Asp) c.5826A>C (p.Glu1942Asp) c.5454A>C (p.Glu1818Asp) c.5610A>C (p.Glu1870Asp) c.5817A>C (p.Glu1939Asp) c.5118A>C (p.Glu1706Asp) c.5865A>C (p.Glu1955Asp) | dbSNP |
16 | g.3729177T>A | CA394555148 | CREBBP | c.5870A>T (p.Glu1957Val) c.5756A>T (p.Glu1919Val) c.5825A>T (p.Glu1942Val) c.5453A>T (p.Glu1818Val) c.5609A>T (p.Glu1870Val) c.5816A>T (p.Glu1939Val) c.5117A>T (p.Glu1706Val) c.5864A>T (p.Glu1955Val) | |
16 | g.3729177T>C | CA394555150 | CREBBP | c.5870A>G (p.Glu1957Gly) c.5756A>G (p.Glu1919Gly) c.5825A>G (p.Glu1942Gly) c.5453A>G (p.Glu1818Gly) c.5609A>G (p.Glu1870Gly) c.5816A>G (p.Glu1939Gly) c.5117A>G (p.Glu1706Gly) c.5864A>G (p.Glu1955Gly) | |
16 | g.3729177T>G | CA394555152 | CREBBP | c.5870A>C (p.Glu1957Ala) c.5756A>C (p.Glu1919Ala) c.5825A>C (p.Glu1942Ala) c.5453A>C (p.Glu1818Ala) c.5609A>C (p.Glu1870Ala) c.5816A>C (p.Glu1939Ala) c.5117A>C (p.Glu1706Ala) c.5864A>C (p.Glu1955Ala) | |
16 | g.3729177_3729178delinsTC | CA2202916267 | CREBBP | c.5869_5870delinsGA (p.Glu1957=) c.5755_5756delinsGA (p.Glu1919=) c.5824_5825delinsGA (p.Glu1942=) c.5452_5453delinsGA (p.Glu1818=) c.5608_5609delinsGA (p.Glu1870=) c.5815_5816delinsGA (p.Glu1939=) c.5116_5117delinsGA (p.Glu1706=) c.5863_5864delinsGA (p.Glu1955=) | |
16 | g.3729178C>A | CA394555155 | CREBBP | c.5869G>T (p.Glu1957Ter) c.5755G>T (p.Glu1919Ter) c.5824G>T (p.Glu1942Ter) c.5452G>T (p.Glu1818Ter) c.5608G>T (p.Glu1870Ter) c.5815G>T (p.Glu1939Ter) c.5116G>T (p.Glu1706Ter) c.5863G>T (p.Glu1955Ter) | dbSNP gnomAD v4 |
16 | g.3729178C>G | CA394555156 | CREBBP | c.5869G>C (p.Glu1957Gln) c.5755G>C (p.Glu1919Gln) c.5824G>C (p.Glu1942Gln) c.5452G>C (p.Glu1818Gln) c.5608G>C (p.Glu1870Gln) c.5815G>C (p.Glu1939Gln) c.5116G>C (p.Glu1706Gln) c.5863G>C (p.Glu1955Gln) | dbSNP |
16 | g.3729178C>T | CA394555158 | CREBBP | c.5869G>A (p.Glu1957Lys) c.5755G>A (p.Glu1919Lys) c.5824G>A (p.Glu1942Lys) c.5452G>A (p.Glu1818Lys) c.5608G>A (p.Glu1870Lys) c.5815G>A (p.Glu1939Lys) c.5116G>A (p.Glu1706Lys) c.5863G>A (p.Glu1955Lys) | dbSNP |
16 | g.3729179del | CA271433 | CREBBP | c.5869del (p.Glu1957LysfsTer19) c.5755del (p.Glu1919LysfsTer19) c.5824del (p.Glu1942LysfsTer19) c.5452del (p.Glu1818LysfsTer19) c.5608del (p.Glu1870LysfsTer19) c.5815del (p.Glu1939LysfsTer19) c.5116del (p.Glu1706LysfsTer19) c.5863del (p.Glu1955LysfsTer19) | ClinVar dbSNP |
16 | g.3729179C>A | CA493393873 | CREBBP | c.5868G>T (p.Val1956=) c.5754G>T (p.Val1918=) c.5823G>T (p.Val1941=) c.5451G>T (p.Val1817=) c.5607G>T (p.Val1869=) c.5814G>T (p.Val1938=) c.5115G>T (p.Val1705=) c.5862G>T (p.Val1954=) | gnomAD v4 |
16 | g.3729179C>G | CA493393874 | CREBBP | c.5868G>C (p.Val1956=) c.5754G>C (p.Val1918=) c.5823G>C (p.Val1941=) c.5451G>C (p.Val1817=) c.5607G>C (p.Val1869=) c.5814G>C (p.Val1938=) c.5115G>C (p.Val1705=) c.5862G>C (p.Val1954=) | dbSNP |
16 | g.3729179C>T | CA493393875 | CREBBP | c.5868G>A (p.Val1956=) c.5754G>A (p.Val1918=) c.5823G>A (p.Val1941=) c.5451G>A (p.Val1817=) c.5607G>A (p.Val1869=) c.5814G>A (p.Val1938=) c.5115G>A (p.Val1705=) c.5862G>A (p.Val1954=) | dbSNP gnomAD v4 |
16 | g.3729180A>C | CA394555161 | CREBBP | c.5867T>G (p.Val1956Gly) c.5753T>G (p.Val1918Gly) c.5822T>G (p.Val1941Gly) c.5450T>G (p.Val1817Gly) c.5606T>G (p.Val1869Gly) c.5813T>G (p.Val1938Gly) c.5114T>G (p.Val1705Gly) c.5861T>G (p.Val1954Gly) | dbSNP gnomAD v4 |
16 | g.3729180A>G | CA394555163 | CREBBP | c.5867T>C (p.Val1956Ala) c.5753T>C (p.Val1918Ala) c.5822T>C (p.Val1941Ala) c.5450T>C (p.Val1817Ala) c.5606T>C (p.Val1869Ala) c.5813T>C (p.Val1938Ala) c.5114T>C (p.Val1705Ala) c.5861T>C (p.Val1954Ala) | dbSNP |
16 | g.3729180A>T | CA394555164 | CREBBP | c.5867T>A (p.Val1956Glu) c.5753T>A (p.Val1918Glu) c.5822T>A (p.Val1941Glu) c.5450T>A (p.Val1817Glu) c.5606T>A (p.Val1869Glu) c.5813T>A (p.Val1938Glu) c.5114T>A (p.Val1705Glu) c.5861T>A (p.Val1954Glu) | dbSNP |
16 | g.3729181C>A | CA394555165 | CREBBP | c.5866G>T (p.Val1956Leu) c.5752G>T (p.Val1918Leu) c.5821G>T (p.Val1941Leu) c.5449G>T (p.Val1817Leu) c.5605G>T (p.Val1869Leu) c.5812G>T (p.Val1938Leu) c.5113G>T (p.Val1705Leu) c.5860G>T (p.Val1954Leu) | gnomAD v4 |
16 | g.3729181C>G | CA394555167 | CREBBP | c.5866G>C (p.Val1956Leu) c.5752G>C (p.Val1918Leu) c.5821G>C (p.Val1941Leu) c.5449G>C (p.Val1817Leu) c.5605G>C (p.Val1869Leu) c.5812G>C (p.Val1938Leu) c.5113G>C (p.Val1705Leu) c.5860G>C (p.Val1954Leu) | |
16 | g.3729181C>T | CA394555169 | CREBBP | c.5866G>A (p.Val1956Met) c.5752G>A (p.Val1918Met) c.5821G>A (p.Val1941Met) c.5449G>A (p.Val1817Met) c.5605G>A (p.Val1869Met) c.5812G>A (p.Val1938Met) c.5113G>A (p.Val1705Met) c.5860G>A (p.Val1954Met) | dbSNP |
16 | g.3729182C>A | CA493393877 | CREBBP | c.5865G>T (p.Ala1955=) c.5751G>T (p.Ala1917=) c.5820G>T (p.Ala1940=) c.5448G>T (p.Ala1816=) c.5604G>T (p.Ala1868=) c.5811G>T (p.Ala1937=) c.5112G>T (p.Ala1704=) c.5859G>T (p.Ala1953=) | gnomAD v4 |
16 | g.3729182C= | CA2202916268 | CREBBP | c.5865G= (p.Ala1955=) c.5751G= (p.Ala1917=) c.5820G= (p.Ala1940=) c.5448G= (p.Ala1816=) c.5604G= (p.Ala1868=) c.5811G= (p.Ala1937=) c.5112G= (p.Ala1704=) c.5859G= (p.Ala1953=) | |
16 | g.3729182C>G | CA493393878 | CREBBP | c.5865G>C (p.Ala1955=) c.5751G>C (p.Ala1917=) c.5820G>C (p.Ala1940=) c.5448G>C (p.Ala1816=) c.5604G>C (p.Ala1868=) c.5811G>C (p.Ala1937=) c.5112G>C (p.Ala1704=) c.5859G>C (p.Ala1953=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729182C>T | CA7869236 | CREBBP | c.5865G>A (p.Ala1955=) c.5751G>A (p.Ala1917=) c.5820G>A (p.Ala1940=) c.5448G>A (p.Ala1816=) c.5604G>A (p.Ala1868=) c.5811G>A (p.Ala1937=) c.5112G>A (p.Ala1704=) c.5859G>A (p.Ala1953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729183G>A | CA394555174 | CREBBP | c.5864C>T (p.Ala1955Val) c.5750C>T (p.Ala1917Val) c.5819C>T (p.Ala1940Val) c.5447C>T (p.Ala1816Val) c.5603C>T (p.Ala1868Val) c.5810C>T (p.Ala1937Val) c.5111C>T (p.Ala1704Val) c.5858C>T (p.Ala1953Val) | dbSNP gnomAD v4 |
16 | g.3729183G>C | CA394555173 | CREBBP | c.5864C>G (p.Ala1955Gly) c.5750C>G (p.Ala1917Gly) c.5819C>G (p.Ala1940Gly) c.5447C>G (p.Ala1816Gly) c.5603C>G (p.Ala1868Gly) c.5810C>G (p.Ala1937Gly) c.5111C>G (p.Ala1704Gly) c.5858C>G (p.Ala1953Gly) | dbSNP |
16 | g.3729183G>T | CA394555176 | CREBBP | c.5864C>A (p.Ala1955Glu) c.5750C>A (p.Ala1917Glu) c.5819C>A (p.Ala1940Glu) c.5447C>A (p.Ala1816Glu) c.5603C>A (p.Ala1868Glu) c.5810C>A (p.Ala1937Glu) c.5111C>A (p.Ala1704Glu) c.5858C>A (p.Ala1953Glu) | gnomAD v4 |
16 | g.3729184C>A | CA394555178 | CREBBP | c.5863G>T (p.Ala1955Ser) c.5749G>T (p.Ala1917Ser) c.5818G>T (p.Ala1940Ser) c.5446G>T (p.Ala1816Ser) c.5602G>T (p.Ala1868Ser) c.5809G>T (p.Ala1937Ser) c.5110G>T (p.Ala1704Ser) c.5857G>T (p.Ala1953Ser) | |
16 | g.3729184C= | CA2202916269 | CREBBP | c.5863G= (p.Ala1955=) c.5749G= (p.Ala1917=) c.5818G= (p.Ala1940=) c.5446G= (p.Ala1816=) c.5602G= (p.Ala1868=) c.5809G= (p.Ala1937=) c.5110G= (p.Ala1704=) c.5857G= (p.Ala1953=) | |
16 | g.3729184C>G | CA394555181 | CREBBP | c.5863G>C (p.Ala1955Pro) c.5749G>C (p.Ala1917Pro) c.5818G>C (p.Ala1940Pro) c.5446G>C (p.Ala1816Pro) c.5602G>C (p.Ala1868Pro) c.5809G>C (p.Ala1937Pro) c.5110G>C (p.Ala1704Pro) c.5857G>C (p.Ala1953Pro) | dbSNP |
16 | g.3729184C>T | CA394555180 | CREBBP | c.5863G>A (p.Ala1955Thr) c.5749G>A (p.Ala1917Thr) c.5818G>A (p.Ala1940Thr) c.5446G>A (p.Ala1816Thr) c.5602G>A (p.Ala1868Thr) c.5809G>A (p.Ala1937Thr) c.5110G>A (p.Ala1704Thr) c.5857G>A (p.Ala1953Thr) | |
16 | g.3729185T>A | CA493393882 | CREBBP | c.5862A>T (p.Ala1954=) c.5748A>T (p.Ala1916=) c.5817A>T (p.Ala1939=) c.5445A>T (p.Ala1815=) c.5601A>T (p.Ala1867=) c.5808A>T (p.Ala1936=) c.5109A>T (p.Ala1703=) c.5856A>T (p.Ala1952=) | dbSNP |
16 | g.3729185T>C | CA493393884 | CREBBP | c.5862A>G (p.Ala1954=) c.5748A>G (p.Ala1916=) c.5817A>G (p.Ala1939=) c.5445A>G (p.Ala1815=) c.5601A>G (p.Ala1867=) c.5808A>G (p.Ala1936=) c.5109A>G (p.Ala1703=) c.5856A>G (p.Ala1952=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729185T>G | CA493393883 | CREBBP | c.5862A>C (p.Ala1954=) c.5748A>C (p.Ala1916=) c.5817A>C (p.Ala1939=) c.5445A>C (p.Ala1815=) c.5601A>C (p.Ala1867=) c.5808A>C (p.Ala1936=) c.5109A>C (p.Ala1703=) c.5856A>C (p.Ala1952=) | dbSNP gnomAD v4 |
16 | g.3729185T= | CA2202916270 | CREBBP | c.5862A= (p.Ala1954=) c.5748A= (p.Ala1916=) c.5817A= (p.Ala1939=) c.5445A= (p.Ala1815=) c.5601A= (p.Ala1867=) c.5808A= (p.Ala1936=) c.5109A= (p.Ala1703=) c.5856A= (p.Ala1952=) | |
16 | g.3729186G>A | CA394555184 | CREBBP | c.5861C>T (p.Ala1954Val) c.5747C>T (p.Ala1916Val) c.5816C>T (p.Ala1939Val) c.5444C>T (p.Ala1815Val) c.5600C>T (p.Ala1867Val) c.5807C>T (p.Ala1936Val) c.5108C>T (p.Ala1703Val) c.5855C>T (p.Ala1952Val) | dbSNP gnomAD v4 |
16 | g.3729186G>C | CA394555186 | CREBBP | c.5861C>G (p.Ala1954Gly) c.5747C>G (p.Ala1916Gly) c.5816C>G (p.Ala1939Gly) c.5444C>G (p.Ala1815Gly) c.5600C>G (p.Ala1867Gly) c.5807C>G (p.Ala1936Gly) c.5108C>G (p.Ala1703Gly) c.5855C>G (p.Ala1952Gly) | |
16 | g.3729186G>T | CA394555187 | CREBBP | c.5861C>A (p.Ala1954Glu) c.5747C>A (p.Ala1916Glu) c.5816C>A (p.Ala1939Glu) c.5444C>A (p.Ala1815Glu) c.5600C>A (p.Ala1867Glu) c.5807C>A (p.Ala1936Glu) c.5108C>A (p.Ala1703Glu) c.5855C>A (p.Ala1952Glu) | gnomAD v4 |
16 | g.3729187C>A | CA394555190 | CREBBP | c.5860G>T (p.Ala1954Ser) c.5746G>T (p.Ala1916Ser) c.5815G>T (p.Ala1939Ser) c.5443G>T (p.Ala1815Ser) c.5599G>T (p.Ala1867Ser) c.5806G>T (p.Ala1936Ser) c.5107G>T (p.Ala1703Ser) c.5854G>T (p.Ala1952Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729187C= | CA2202916271 | CREBBP | c.5860G= (p.Ala1954=) c.5746G= (p.Ala1916=) c.5815G= (p.Ala1939=) c.5443G= (p.Ala1815=) c.5599G= (p.Ala1867=) c.5806G= (p.Ala1936=) c.5107G= (p.Ala1703=) c.5854G= (p.Ala1952=) | |
16 | g.3729187C>G | CA394555192 | CREBBP | c.5860G>C (p.Ala1954Pro) c.5746G>C (p.Ala1916Pro) c.5815G>C (p.Ala1939Pro) c.5443G>C (p.Ala1815Pro) c.5599G>C (p.Ala1867Pro) c.5806G>C (p.Ala1936Pro) c.5107G>C (p.Ala1703Pro) c.5854G>C (p.Ala1952Pro) | dbSNP gnomAD v4 |
16 | g.3729187C>T | CA394555193 | CREBBP | c.5860G>A (p.Ala1954Thr) c.5746G>A (p.Ala1916Thr) c.5815G>A (p.Ala1939Thr) c.5443G>A (p.Ala1815Thr) c.5599G>A (p.Ala1867Thr) c.5806G>A (p.Ala1936Thr) c.5107G>A (p.Ala1703Thr) c.5854G>A (p.Ala1952Thr) | dbSNP gnomAD v4 |
16 | g.3729188A= | CA2202916272 | CREBBP | c.5859T= (p.Pro1953=) c.5745T= (p.Pro1915=) c.5814T= (p.Pro1938=) c.5442T= (p.Pro1814=) c.5598T= (p.Pro1866=) c.5805T= (p.Pro1935=) c.5106T= (p.Pro1702=) c.5853T= (p.Pro1951=) | |
16 | g.3729188A>C | CA493393888 | CREBBP | c.5859T>G (p.Pro1953=) c.5745T>G (p.Pro1915=) c.5814T>G (p.Pro1938=) c.5442T>G (p.Pro1814=) c.5598T>G (p.Pro1866=) c.5805T>G (p.Pro1935=) c.5106T>G (p.Pro1702=) c.5853T>G (p.Pro1951=) | |
16 | g.3729188A>G | CA276971976 | CREBBP | c.5859T>C (p.Pro1953=) c.5745T>C (p.Pro1915=) c.5814T>C (p.Pro1938=) c.5442T>C (p.Pro1814=) c.5598T>C (p.Pro1866=) c.5805T>C (p.Pro1935=) c.5106T>C (p.Pro1702=) c.5853T>C (p.Pro1951=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729188A>T | CA493393889 | CREBBP | c.5859T>A (p.Pro1953=) c.5745T>A (p.Pro1915=) c.5814T>A (p.Pro1938=) c.5442T>A (p.Pro1814=) c.5598T>A (p.Pro1866=) c.5805T>A (p.Pro1935=) c.5106T>A (p.Pro1702=) c.5853T>A (p.Pro1951=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3729189G>A | CA394555197 | CREBBP | c.5858C>T (p.Pro1953Leu) c.5744C>T (p.Pro1915Leu) c.5813C>T (p.Pro1938Leu) c.5441C>T (p.Pro1814Leu) c.5597C>T (p.Pro1866Leu) c.5804C>T (p.Pro1935Leu) c.5105C>T (p.Pro1702Leu) c.5852C>T (p.Pro1951Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3729189G>C | CA394555199 | CREBBP | c.5858C>G (p.Pro1953Arg) c.5744C>G (p.Pro1915Arg) c.5813C>G (p.Pro1938Arg) c.5441C>G (p.Pro1814Arg) c.5597C>G (p.Pro1866Arg) c.5804C>G (p.Pro1935Arg) c.5105C>G (p.Pro1702Arg) c.5852C>G (p.Pro1951Arg) | dbSNP |
16 | g.3729189G= | CA2202916273 | CREBBP | c.5858C= (p.Pro1953=) c.5744C= (p.Pro1915=) c.5813C= (p.Pro1938=) c.5441C= (p.Pro1814=) c.5597C= (p.Pro1866=) c.5804C= (p.Pro1935=) c.5105C= (p.Pro1702=) c.5852C= (p.Pro1951=) | |
16 | g.3729189G>T | CA394555201 | CREBBP | c.5858C>A (p.Pro1953His) c.5744C>A (p.Pro1915His) c.5813C>A (p.Pro1938His) c.5441C>A (p.Pro1814His) c.5597C>A (p.Pro1866His) c.5804C>A (p.Pro1935His) c.5105C>A (p.Pro1702His) c.5852C>A (p.Pro1951His) | gnomAD v4 |
16 | g.3729190G>A | CA394555207 | CREBBP | c.5857C>T (p.Pro1953Ser) c.5743C>T (p.Pro1915Ser) c.5812C>T (p.Pro1938Ser) c.5440C>T (p.Pro1814Ser) c.5596C>T (p.Pro1866Ser) c.5803C>T (p.Pro1935Ser) c.5104C>T (p.Pro1702Ser) c.5851C>T (p.Pro1951Ser) | dbSNP gnomAD v4 |
16 | g.3729190G>C | CA394555205 | CREBBP | c.5857C>G (p.Pro1953Ala) c.5743C>G (p.Pro1915Ala) c.5812C>G (p.Pro1938Ala) c.5440C>G (p.Pro1814Ala) c.5596C>G (p.Pro1866Ala) c.5803C>G (p.Pro1935Ala) c.5104C>G (p.Pro1702Ala) c.5851C>G (p.Pro1951Ala) | dbSNP |
16 | g.3729190G= | CA2202916274 | CREBBP | c.5857C= (p.Pro1953=) c.5743C= (p.Pro1915=) c.5812C= (p.Pro1938=) c.5440C= (p.Pro1814=) c.5596C= (p.Pro1866=) c.5803C= (p.Pro1935=) c.5104C= (p.Pro1702=) c.5851C= (p.Pro1951=) | |
16 | g.3729190G>T | CA394555203 | CREBBP | c.5857C>A (p.Pro1953Thr) c.5743C>A (p.Pro1915Thr) c.5812C>A (p.Pro1938Thr) c.5440C>A (p.Pro1814Thr) c.5596C>A (p.Pro1866Thr) c.5803C>A (p.Pro1935Thr) c.5104C>A (p.Pro1702Thr) c.5851C>A (p.Pro1951Thr) | gnomAD v4 |
16 | g.3729191_3729210dup | CA2695222623 | CREBBP | c.5838_5857dup (p.Pro1953HisfsTer30) c.5724_5743dup (p.Pro1915HisfsTer30) c.5793_5812dup (p.Pro1938HisfsTer30) c.5421_5440dup (p.Pro1814HisfsTer30) c.5577_5596dup (p.Pro1866HisfsTer30) c.5784_5803dup (p.Pro1935HisfsTer30) c.5085_5104dup (p.Pro1702HisfsTer30) c.5832_5851dup (p.Pro1951HisfsTer30) | |
16 | g.3729191A= | CA2202916275 | CREBBP | c.5856T= (p.Pro1952=) c.5742T= (p.Pro1914=) c.5811T= (p.Pro1937=) c.5439T= (p.Pro1813=) c.5595T= (p.Pro1865=) c.5802T= (p.Pro1934=) c.5103T= (p.Pro1701=) c.5850T= (p.Pro1950=) | |
16 | g.3729191A>C | CA493393890 | CREBBP | c.5856T>G (p.Pro1952=) c.5742T>G (p.Pro1914=) c.5811T>G (p.Pro1937=) c.5439T>G (p.Pro1813=) c.5595T>G (p.Pro1865=) c.5802T>G (p.Pro1934=) c.5103T>G (p.Pro1701=) c.5850T>G (p.Pro1950=) | gnomAD v3 gnomAD v4 |
16 | g.3729191A>G | CA493393891 | CREBBP | c.5856T>C (p.Pro1952=) c.5742T>C (p.Pro1914=) c.5811T>C (p.Pro1937=) c.5439T>C (p.Pro1813=) c.5595T>C (p.Pro1865=) c.5802T>C (p.Pro1934=) c.5103T>C (p.Pro1701=) c.5850T>C (p.Pro1950=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3729191A>T | CA493393893 | CREBBP | c.5856T>A (p.Pro1952=) c.5742T>A (p.Pro1914=) c.5811T>A (p.Pro1937=) c.5439T>A (p.Pro1813=) c.5595T>A (p.Pro1865=) c.5802T>A (p.Pro1934=) c.5103T>A (p.Pro1701=) c.5850T>A (p.Pro1950=) | dbSNP gnomAD v4 |
16 | g.3729191dup | CA915949065 | CREBBP | c.5856dup (p.Pro1953SerfsTer13) c.5742dup (p.Pro1915SerfsTer13) c.5811dup (p.Pro1938SerfsTer13) c.5439dup (p.Pro1814SerfsTer13) c.5595dup (p.Pro1866SerfsTer13) c.5802dup (p.Pro1935SerfsTer13) c.5103dup (p.Pro1702SerfsTer13) c.5850dup (p.Pro1951SerfsTer13) | ClinVar dbSNP |
16 | g.3729192G>A | CA394555209 | CREBBP | c.5855C>T (p.Pro1952Leu) c.5741C>T (p.Pro1914Leu) c.5810C>T (p.Pro1937Leu) c.5438C>T (p.Pro1813Leu) c.5594C>T (p.Pro1865Leu) c.5801C>T (p.Pro1934Leu) c.5102C>T (p.Pro1701Leu) c.5849C>T (p.Pro1950Leu) | dbSNP gnomAD v4 |
16 | g.3729192G>C | CA394555211 | CREBBP | c.5855C>G (p.Pro1952Arg) c.5741C>G (p.Pro1914Arg) c.5810C>G (p.Pro1937Arg) c.5438C>G (p.Pro1813Arg) c.5594C>G (p.Pro1865Arg) c.5801C>G (p.Pro1934Arg) c.5102C>G (p.Pro1701Arg) c.5849C>G (p.Pro1950Arg) | dbSNP gnomAD v2 |
16 | g.3729192G= | CA2202916276 | CREBBP | c.5855C= (p.Pro1952=) c.5741C= (p.Pro1914=) c.5810C= (p.Pro1937=) c.5438C= (p.Pro1813=) c.5594C= (p.Pro1865=) c.5801C= (p.Pro1934=) c.5102C= (p.Pro1701=) c.5849C= (p.Pro1950=) | |
16 | g.3729192G>T | CA394555213 | CREBBP | c.5855C>A (p.Pro1952His) c.5741C>A (p.Pro1914His) c.5810C>A (p.Pro1937His) c.5438C>A (p.Pro1813His) c.5594C>A (p.Pro1865His) c.5801C>A (p.Pro1934His) c.5102C>A (p.Pro1701His) c.5849C>A (p.Pro1950His) | dbSNP gnomAD v4 |
16 | g.3729196del | CA2631403617 | CREBBP | c.5855del (p.Pro1952LeufsTer24) c.5741del (p.Pro1914LeufsTer24) c.5810del (p.Pro1937LeufsTer24) c.5438del (p.Pro1813LeufsTer24) c.5594del (p.Pro1865LeufsTer24) c.5801del (p.Pro1934LeufsTer24) c.5102del (p.Pro1701LeufsTer24) c.5849del (p.Pro1950LeufsTer24) | gnomAD v4 |
16 | g.3729200_3729265del | CA2631403618 | CREBBP | c.5790_5855del (p.Thr1931_Pro1952del) c.5676_5741del (p.Thr1893_Pro1914del) c.5745_5810del (p.Thr1916_Pro1937del) c.5373_5438del (p.Thr1792_Pro1813del) c.5529_5594del (p.Thr1844_Pro1865del) c.5736_5801del (p.Thr1913_Pro1934del) c.5037_5102del (p.Thr1680_Pro1701del) c.5784_5849del (p.Thr1929_Pro1950del) | gnomAD v4 |
16 | g.3729193G>A | CA394555215 | CREBBP | c.5854C>T (p.Pro1952Ser) c.5740C>T (p.Pro1914Ser) c.5809C>T (p.Pro1937Ser) c.5437C>T (p.Pro1813Ser) c.5593C>T (p.Pro1865Ser) c.5800C>T (p.Pro1934Ser) c.5101C>T (p.Pro1701Ser) c.5848C>T (p.Pro1950Ser) | gnomAD v4 |
16 | g.3729193G>C | CA394555217 | CREBBP | c.5854C>G (p.Pro1952Ala) c.5740C>G (p.Pro1914Ala) c.5809C>G (p.Pro1937Ala) c.5437C>G (p.Pro1813Ala) c.5593C>G (p.Pro1865Ala) c.5800C>G (p.Pro1934Ala) c.5101C>G (p.Pro1701Ala) c.5848C>G (p.Pro1950Ala) | |
16 | g.3729193G>T | CA394555219 | CREBBP | c.5854C>A (p.Pro1952Thr) c.5740C>A (p.Pro1914Thr) c.5809C>A (p.Pro1937Thr) c.5437C>A (p.Pro1813Thr) c.5593C>A (p.Pro1865Thr) c.5800C>A (p.Pro1934Thr) c.5101C>A (p.Pro1701Thr) c.5848C>A (p.Pro1950Thr) | gnomAD v4 |