| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3728831C>A | CA493393695 | CREBBP | c.6216G>T (p.Arg2072=) c.6102G>T (p.Arg2034=) c.6171G>T (p.Arg2057=) c.5799G>T (p.Arg1933=) c.5955G>T (p.Arg1985=) c.6162G>T (p.Arg2054=) c.5463G>T (p.Arg1821=) c.6210G>T (p.Arg2070=) | dbSNP |
| 16 | g.3728831C= | CA2202928866 | CREBBP | c.6216G= (p.Arg2072=) c.6102G= (p.Arg2034=) c.6171G= (p.Arg2057=) c.5799G= (p.Arg1933=) c.5955G= (p.Arg1985=) c.6162G= (p.Arg2054=) c.5463G= (p.Arg1821=) c.6210G= (p.Arg2070=) | |
| 16 | g.3728831C>G | CA493393696 | CREBBP | c.6216G>C (p.Arg2072=) c.6102G>C (p.Arg2034=) c.6171G>C (p.Arg2057=) c.5799G>C (p.Arg1933=) c.5955G>C (p.Arg1985=) c.6162G>C (p.Arg2054=) c.5463G>C (p.Arg1821=) c.6210G>C (p.Arg2070=) | dbSNP |
| 16 | g.3728831C>T | CA7869157 | CREBBP | c.6216G>A (p.Arg2072=) c.6102G>A (p.Arg2034=) c.6171G>A (p.Arg2057=) c.5799G>A (p.Arg1933=) c.5955G>A (p.Arg1985=) c.6162G>A (p.Arg2054=) c.5463G>A (p.Arg1821=) c.6210G>A (p.Arg2070=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3728832C>A | CA394553878 | CREBBP | c.6215G>T (p.Arg2072Leu) c.6101G>T (p.Arg2034Leu) c.6170G>T (p.Arg2057Leu) c.5798G>T (p.Arg1933Leu) c.5954G>T (p.Arg1985Leu) c.6161G>T (p.Arg2054Leu) c.5462G>T (p.Arg1821Leu) c.6209G>T (p.Arg2070Leu) | |
| 16 | g.3728832C= | CA2202928867 | CREBBP | c.6215G= (p.Arg2072=) c.6101G= (p.Arg2034=) c.6170G= (p.Arg2057=) c.5798G= (p.Arg1933=) c.5954G= (p.Arg1985=) c.6161G= (p.Arg2054=) c.5462G= (p.Arg1821=) c.6209G= (p.Arg2070=) | |
| 16 | g.3728832C>G | CA394553879 | CREBBP | c.6215G>C (p.Arg2072Pro) c.6101G>C (p.Arg2034Pro) c.6170G>C (p.Arg2057Pro) c.5798G>C (p.Arg1933Pro) c.5954G>C (p.Arg1985Pro) c.6161G>C (p.Arg2054Pro) c.5462G>C (p.Arg1821Pro) c.6209G>C (p.Arg2070Pro) | |
| 16 | g.3728832C>T | CA394553880 | CREBBP | c.6215G>A (p.Arg2072Gln) c.6101G>A (p.Arg2034Gln) c.6170G>A (p.Arg2057Gln) c.5798G>A (p.Arg1933Gln) c.5954G>A (p.Arg1985Gln) c.6161G>A (p.Arg2054Gln) c.5462G>A (p.Arg1821Gln) c.6209G>A (p.Arg2070Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3728833G>A | CA394553881 | CREBBP | c.6214C>T (p.Arg2072Trp) c.6100C>T (p.Arg2034Trp) c.6169C>T (p.Arg2057Trp) c.5797C>T (p.Arg1933Trp) c.5953C>T (p.Arg1985Trp) c.6160C>T (p.Arg2054Trp) c.5461C>T (p.Arg1821Trp) c.6208C>T (p.Arg2070Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3728833G>C | CA394553882 | CREBBP | c.6214C>G (p.Arg2072Gly) c.6100C>G (p.Arg2034Gly) c.6169C>G (p.Arg2057Gly) c.5797C>G (p.Arg1933Gly) c.5953C>G (p.Arg1985Gly) c.6160C>G (p.Arg2054Gly) c.5461C>G (p.Arg1821Gly) c.6208C>G (p.Arg2070Gly) | dbSNP |
| 16 | g.3728833G= | CA2202928868 | CREBBP | c.6214C= (p.Arg2072=) c.6100C= (p.Arg2034=) c.6169C= (p.Arg2057=) c.5797C= (p.Arg1933=) c.5953C= (p.Arg1985=) c.6160C= (p.Arg2054=) c.5461C= (p.Arg1821=) c.6208C= (p.Arg2070=) | |
| 16 | g.3728833G>T | CA493393700 | CREBBP | c.6214C>A (p.Arg2072=) c.6100C>A (p.Arg2034=) c.6169C>A (p.Arg2057=) c.5797C>A (p.Arg1933=) c.5953C>A (p.Arg1985=) c.6160C>A (p.Arg2054=) c.5461C>A (p.Arg1821=) c.6208C>A (p.Arg2070=) | |
| 16 | g.3728834C>A | CA493393701 | CREBBP | c.6213G>T (p.Leu2071=) c.6099G>T (p.Leu2033=) c.6168G>T (p.Leu2056=) c.5796G>T (p.Leu1932=) c.5952G>T (p.Leu1984=) c.6159G>T (p.Leu2053=) c.5460G>T (p.Leu1820=) c.6207G>T (p.Leu2069=) | |
| 16 | g.3728834C= | CA2202928869 | CREBBP | c.6213G= (p.Leu2071=) c.6099G= (p.Leu2033=) c.6168G= (p.Leu2056=) c.5796G= (p.Leu1932=) c.5952G= (p.Leu1984=) c.6159G= (p.Leu2053=) c.5460G= (p.Leu1820=) c.6207G= (p.Leu2069=) | |
| 16 | g.3728834C>G | CA493393702 | CREBBP | c.6213G>C (p.Leu2071=) c.6099G>C (p.Leu2033=) c.6168G>C (p.Leu2056=) c.5796G>C (p.Leu1932=) c.5952G>C (p.Leu1984=) c.6159G>C (p.Leu2053=) c.5460G>C (p.Leu1820=) c.6207G>C (p.Leu2069=) | dbSNP |
| 16 | g.3728834C>T | CA7869158 | CREBBP | c.6213G>A (p.Leu2071=) c.6099G>A (p.Leu2033=) c.6168G>A (p.Leu2056=) c.5796G>A (p.Leu1932=) c.5952G>A (p.Leu1984=) c.6159G>A (p.Leu2053=) c.5460G>A (p.Leu1820=) c.6207G>A (p.Leu2069=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3728835A>C | CA394553883 | CREBBP | c.6212T>G (p.Leu2071Arg) c.6098T>G (p.Leu2033Arg) c.6167T>G (p.Leu2056Arg) c.5795T>G (p.Leu1932Arg) c.5951T>G (p.Leu1984Arg) c.6158T>G (p.Leu2053Arg) c.5459T>G (p.Leu1820Arg) c.6206T>G (p.Leu2069Arg) | |
| 16 | g.3728835A>G | CA394553884 | CREBBP | c.6212T>C (p.Leu2071Pro) c.6098T>C (p.Leu2033Pro) c.6167T>C (p.Leu2056Pro) c.5795T>C (p.Leu1932Pro) c.5951T>C (p.Leu1984Pro) c.6158T>C (p.Leu2053Pro) c.5459T>C (p.Leu1820Pro) c.6206T>C (p.Leu2069Pro) | |
| 16 | g.3728835A>T | CA394553885 | CREBBP | c.6212T>A (p.Leu2071Gln) c.6098T>A (p.Leu2033Gln) c.6167T>A (p.Leu2056Gln) c.5795T>A (p.Leu1932Gln) c.5951T>A (p.Leu1984Gln) c.6158T>A (p.Leu2053Gln) c.5459T>A (p.Leu1820Gln) c.6206T>A (p.Leu2069Gln) | dbSNP gnomAD v4 |
| 16 | g.3728836G>A | CA493393703 | CREBBP | c.6211C>T (p.Leu2071=) c.6097C>T (p.Leu2033=) c.6166C>T (p.Leu2056=) c.5794C>T (p.Leu1932=) c.5950C>T (p.Leu1984=) c.6157C>T (p.Leu2053=) c.5458C>T (p.Leu1820=) c.6205C>T (p.Leu2069=) | dbSNP gnomAD v4 |
| 16 | g.3728836G>C | CA394553886 | CREBBP | c.6211C>G (p.Leu2071Val) c.6097C>G (p.Leu2033Val) c.6166C>G (p.Leu2056Val) c.5794C>G (p.Leu1932Val) c.5950C>G (p.Leu1984Val) c.6157C>G (p.Leu2053Val) c.5458C>G (p.Leu1820Val) c.6205C>G (p.Leu2069Val) | dbSNP |
| 16 | g.3728836G= | CA2202928870 | CREBBP | c.6211C= (p.Leu2071=) c.6097C= (p.Leu2033=) c.6166C= (p.Leu2056=) c.5794C= (p.Leu1932=) c.5950C= (p.Leu1984=) c.6157C= (p.Leu2053=) c.5458C= (p.Leu1820=) c.6205C= (p.Leu2069=) | |
| 16 | g.3728836G>T | CA7869159 | CREBBP | c.6211C>A (p.Leu2071Met) c.6097C>A (p.Leu2033Met) c.6166C>A (p.Leu2056Met) c.5794C>A (p.Leu1932Met) c.5950C>A (p.Leu1984Met) c.6157C>A (p.Leu2053Met) c.5458C>A (p.Leu1820Met) c.6205C>A (p.Leu2069Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3728837C>A | CA493393705 | CREBBP | c.6210G>T (p.Leu2070=) c.6096G>T (p.Leu2032=) c.6165G>T (p.Leu2055=) c.5793G>T (p.Leu1931=) c.5949G>T (p.Leu1983=) c.6156G>T (p.Leu2052=) c.5457G>T (p.Leu1819=) c.6204G>T (p.Leu2068=) | |
| 16 | g.3728837C>G | CA493393706 | CREBBP | c.6210G>C (p.Leu2070=) c.6096G>C (p.Leu2032=) c.6165G>C (p.Leu2055=) c.5793G>C (p.Leu1931=) c.5949G>C (p.Leu1983=) c.6156G>C (p.Leu2052=) c.5457G>C (p.Leu1819=) c.6204G>C (p.Leu2068=) | |
| 16 | g.3728837C>T | CA493393707 | CREBBP | c.6210G>A (p.Leu2070=) c.6096G>A (p.Leu2032=) c.6165G>A (p.Leu2055=) c.5793G>A (p.Leu1931=) c.5949G>A (p.Leu1983=) c.6156G>A (p.Leu2052=) c.5457G>A (p.Leu1819=) c.6204G>A (p.Leu2068=) | dbSNP gnomAD v4 |
| 16 | g.3728838A>C | CA394553887 | CREBBP | c.6209T>G (p.Leu2070Arg) c.6095T>G (p.Leu2032Arg) c.6164T>G (p.Leu2055Arg) c.5792T>G (p.Leu1931Arg) c.5948T>G (p.Leu1983Arg) c.6155T>G (p.Leu2052Arg) c.5456T>G (p.Leu1819Arg) c.6203T>G (p.Leu2068Arg) | |
| 16 | g.3728838A>G | CA394553888 | CREBBP | c.6209T>C (p.Leu2070Pro) c.6095T>C (p.Leu2032Pro) c.6164T>C (p.Leu2055Pro) c.5792T>C (p.Leu1931Pro) c.5948T>C (p.Leu1983Pro) c.6155T>C (p.Leu2052Pro) c.5456T>C (p.Leu1819Pro) c.6203T>C (p.Leu2068Pro) | dbSNP |
| 16 | g.3728838A>T | CA394553889 | CREBBP | c.6209T>A (p.Leu2070Gln) c.6095T>A (p.Leu2032Gln) c.6164T>A (p.Leu2055Gln) c.5792T>A (p.Leu1931Gln) c.5948T>A (p.Leu1983Gln) c.6155T>A (p.Leu2052Gln) c.5456T>A (p.Leu1819Gln) c.6203T>A (p.Leu2068Gln) | dbSNP |
| 16 | g.3728839G>A | CA493393708 | CREBBP | c.6208C>T (p.Leu2070=) c.6094C>T (p.Leu2032=) c.6163C>T (p.Leu2055=) c.5791C>T (p.Leu1931=) c.5947C>T (p.Leu1983=) c.6154C>T (p.Leu2052=) c.5455C>T (p.Leu1819=) c.6202C>T (p.Leu2068=) | dbSNP gnomAD v4 |
| 16 | g.3728839G>C | CA394553890 | CREBBP | c.6208C>G (p.Leu2070Val) c.6094C>G (p.Leu2032Val) c.6163C>G (p.Leu2055Val) c.5791C>G (p.Leu1931Val) c.5947C>G (p.Leu1983Val) c.6154C>G (p.Leu2052Val) c.5455C>G (p.Leu1819Val) c.6202C>G (p.Leu2068Val) | dbSNP |
| 16 | g.3728839G= | CA2202928871 | CREBBP | c.6208C= (p.Leu2070=) c.6094C= (p.Leu2032=) c.6163C= (p.Leu2055=) c.5791C= (p.Leu1931=) c.5947C= (p.Leu1983=) c.6154C= (p.Leu2052=) c.5455C= (p.Leu1819=) c.6202C= (p.Leu2068=) | |
| 16 | g.3728839G>T | CA394553891 | CREBBP | c.6208C>A (p.Leu2070Met) c.6094C>A (p.Leu2032Met) c.6163C>A (p.Leu2055Met) c.5791C>A (p.Leu1931Met) c.5947C>A (p.Leu1983Met) c.6154C>A (p.Leu2052Met) c.5455C>A (p.Leu1819Met) c.6202C>A (p.Leu2068Met) | |
| 16 | g.3728840G>A | CA7869160 | CREBBP | c.6207C>T (p.Asp2069=) c.6093C>T (p.Asp2031=) c.6162C>T (p.Asp2054=) c.5790C>T (p.Asp1930=) c.5946C>T (p.Asp1982=) c.6153C>T (p.Asp2051=) c.5454C>T (p.Asp1818=) c.6201C>T (p.Asp2067=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3728840G>C | CA394553893 | CREBBP | c.6207C>G (p.Asp2069Glu) c.6093C>G (p.Asp2031Glu) c.6162C>G (p.Asp2054Glu) c.5790C>G (p.Asp1930Glu) c.5946C>G (p.Asp1982Glu) c.6153C>G (p.Asp2051Glu) c.5454C>G (p.Asp1818Glu) c.6201C>G (p.Asp2067Glu) | |
| 16 | g.3728840G= | CA2202928872 | CREBBP | c.6207C= (p.Asp2069=) c.6093C= (p.Asp2031=) c.6162C= (p.Asp2054=) c.5790C= (p.Asp1930=) c.5946C= (p.Asp1982=) c.6153C= (p.Asp2051=) c.5454C= (p.Asp1818=) c.6201C= (p.Asp2067=) | |
| 16 | g.3728840G>T | CA394553892 | CREBBP | c.6207C>A (p.Asp2069Glu) c.6093C>A (p.Asp2031Glu) c.6162C>A (p.Asp2054Glu) c.5790C>A (p.Asp1930Glu) c.5946C>A (p.Asp1982Glu) c.6153C>A (p.Asp2051Glu) c.5454C>A (p.Asp1818Glu) c.6201C>A (p.Asp2067Glu) | |
| 16 | g.3728841T>A | CA394553894 | CREBBP | c.6206A>T (p.Asp2069Val) c.6092A>T (p.Asp2031Val) c.6161A>T (p.Asp2054Val) c.5789A>T (p.Asp1930Val) c.5945A>T (p.Asp1982Val) c.6152A>T (p.Asp2051Val) c.5453A>T (p.Asp1818Val) c.6200A>T (p.Asp2067Val) | dbSNP |
| 16 | g.3728841T>C | CA394553896 | CREBBP | c.6206A>G (p.Asp2069Gly) c.6092A>G (p.Asp2031Gly) c.6161A>G (p.Asp2054Gly) c.5789A>G (p.Asp1930Gly) c.5945A>G (p.Asp1982Gly) c.6152A>G (p.Asp2051Gly) c.5453A>G (p.Asp1818Gly) c.6200A>G (p.Asp2067Gly) | dbSNP |
| 16 | g.3728841T>G | CA394553895 | CREBBP | c.6206A>C (p.Asp2069Ala) c.6092A>C (p.Asp2031Ala) c.6161A>C (p.Asp2054Ala) c.5789A>C (p.Asp1930Ala) c.5945A>C (p.Asp1982Ala) c.6152A>C (p.Asp2051Ala) c.5453A>C (p.Asp1818Ala) c.6200A>C (p.Asp2067Ala) | dbSNP |
| 16 | g.3728842C>A | CA394553897 | CREBBP | c.6205G>T (p.Asp2069Tyr) c.6091G>T (p.Asp2031Tyr) c.6160G>T (p.Asp2054Tyr) c.5788G>T (p.Asp1930Tyr) c.5944G>T (p.Asp1982Tyr) c.6151G>T (p.Asp2051Tyr) c.5452G>T (p.Asp1818Tyr) c.6199G>T (p.Asp2067Tyr) | |
| 16 | g.3728842C>G | CA394553898 | CREBBP | c.6205G>C (p.Asp2069His) c.6091G>C (p.Asp2031His) c.6160G>C (p.Asp2054His) c.5788G>C (p.Asp1930His) c.5944G>C (p.Asp1982His) c.6151G>C (p.Asp2051His) c.5452G>C (p.Asp1818His) c.6199G>C (p.Asp2067His) | |
| 16 | g.3728842C>T | CA394553899 | CREBBP | c.6205G>A (p.Asp2069Asn) c.6091G>A (p.Asp2031Asn) c.6160G>A (p.Asp2054Asn) c.5788G>A (p.Asp1930Asn) c.5944G>A (p.Asp1982Asn) c.6151G>A (p.Asp2051Asn) c.5452G>A (p.Asp1818Asn) c.6199G>A (p.Asp2067Asn) | gnomAD v4 |
| 16 | g.3728843T>A | CA394553900 | CREBBP | c.6204A>T (p.Gln2068His) c.6090A>T (p.Gln2030His) c.6159A>T (p.Gln2053His) c.5787A>T (p.Gln1929His) c.5943A>T (p.Gln1981His) c.6150A>T (p.Gln2050His) c.5451A>T (p.Gln1817His) c.6198A>T (p.Gln2066His) | dbSNP |
| 16 | g.3728843T>C | CA493393710 | CREBBP | c.6204A>G (p.Gln2068=) c.6090A>G (p.Gln2030=) c.6159A>G (p.Gln2053=) c.5787A>G (p.Gln1929=) c.5943A>G (p.Gln1981=) c.6150A>G (p.Gln2050=) c.5451A>G (p.Gln1817=) c.6198A>G (p.Gln2066=) | dbSNP gnomAD v4 |
| 16 | g.3728843T>G | CA394553901 | CREBBP | c.6204A>C (p.Gln2068His) c.6090A>C (p.Gln2030His) c.6159A>C (p.Gln2053His) c.5787A>C (p.Gln1929His) c.5943A>C (p.Gln1981His) c.6150A>C (p.Gln2050His) c.5451A>C (p.Gln1817His) c.6198A>C (p.Gln2066His) | |
| 16 | g.3728844T>A | CA394553902 | CREBBP | c.6203A>T (p.Gln2068Leu) c.6089A>T (p.Gln2030Leu) c.6158A>T (p.Gln2053Leu) c.5786A>T (p.Gln1929Leu) c.5942A>T (p.Gln1981Leu) c.6149A>T (p.Gln2050Leu) c.5450A>T (p.Gln1817Leu) c.6197A>T (p.Gln2066Leu) | dbSNP |
| 16 | g.3728844T>C | CA394553903 | CREBBP | c.6203A>G (p.Gln2068Arg) c.6089A>G (p.Gln2030Arg) c.6158A>G (p.Gln2053Arg) c.5786A>G (p.Gln1929Arg) c.5942A>G (p.Gln1981Arg) c.6149A>G (p.Gln2050Arg) c.5450A>G (p.Gln1817Arg) c.6197A>G (p.Gln2066Arg) | |
| 16 | g.3728844T>G | CA394553904 | CREBBP | c.6203A>C (p.Gln2068Pro) c.6089A>C (p.Gln2030Pro) c.6158A>C (p.Gln2053Pro) c.5786A>C (p.Gln1929Pro) c.5942A>C (p.Gln1981Pro) c.6149A>C (p.Gln2050Pro) c.5450A>C (p.Gln1817Pro) c.6197A>C (p.Gln2066Pro) | dbSNP |
| 16 | g.3728845G>A | CA394553905 | CREBBP | c.6202C>T (p.Gln2068Ter) c.6088C>T (p.Gln2030Ter) c.6157C>T (p.Gln2053Ter) c.5785C>T (p.Gln1929Ter) c.5941C>T (p.Gln1981Ter) c.6148C>T (p.Gln2050Ter) c.5449C>T (p.Gln1817Ter) c.6196C>T (p.Gln2066Ter) | dbSNP |