Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3728875_3728917delinsGCTGCACGCTGGGCATCCGGGGCCCAGCCACGGCCGCCTGGGC | CA2202928889 | CREBBP | c.6130_6172delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2044=) c.6016_6058delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2006=) c.6085_6127delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2029=) c.5713_5755delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1905=) c.5869_5911delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1957=) c.6076_6118delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2026=) c.5377_5419delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala1793=) c.6124_6166delinsGCCCAGGCGGCCGTGGCTGGGCCCCGGATGCCCAGCGTGCAGC (p.Ala2042=) | |
16 | g.3728881_3728922del | CA271438 | CREBBP | c.6130_6171del (p.Ala2044_Gln2057del) c.6016_6057del (p.Ala2006_Gln2019del) c.6085_6126del (p.Ala2029_Gln2042del) c.5713_5754del (p.Ala1905_Gln1918del) c.5869_5910del (p.Ala1957_Gln1970del) c.6076_6117del (p.Ala2026_Gln2039del) c.5377_5418del (p.Ala1793_Gln1806del) c.6124_6165del (p.Ala2042_Gln2055del) | ClinVar dbSNP |
16 | g.3728879_3728888del | CA2731850792 | CREBBP | c.6159_6168del (p.Met2053IlefsTer19) c.6045_6054del (p.Met2015IlefsTer19) c.6114_6123del (p.Met2038IlefsTer19) c.5742_5751del (p.Met1914IlefsTer19) c.5898_5907del (p.Met1966IlefsTer19) c.6105_6114del (p.Met2035IlefsTer19) c.5406_5415del (p.Met1802IlefsTer19) c.6153_6162del (p.Met2051IlefsTer19) | dbSNP |
16 | g.3728883C>A | CA394554004 | CREBBP | c.6164G>T (p.Ser2055Ile) c.6050G>T (p.Ser2017Ile) c.6119G>T (p.Ser2040Ile) c.5747G>T (p.Ser1916Ile) c.5903G>T (p.Ser1968Ile) c.6110G>T (p.Ser2037Ile) c.5411G>T (p.Ser1804Ile) c.6158G>T (p.Ser2053Ile) | dbSNP gnomAD v4 |
16 | g.3728883C>G | CA394554006 | CREBBP | c.6164G>C (p.Ser2055Thr) c.6050G>C (p.Ser2017Thr) c.6119G>C (p.Ser2040Thr) c.5747G>C (p.Ser1916Thr) c.5903G>C (p.Ser1968Thr) c.6110G>C (p.Ser2037Thr) c.5411G>C (p.Ser1804Thr) c.6158G>C (p.Ser2053Thr) | ClinVar dbSNP |
16 | g.3728883C>T | CA394554008 | CREBBP | c.6164G>A (p.Ser2055Asn) c.6050G>A (p.Ser2017Asn) c.6119G>A (p.Ser2040Asn) c.5747G>A (p.Ser1916Asn) c.5903G>A (p.Ser1968Asn) c.6110G>A (p.Ser2037Asn) c.5411G>A (p.Ser1804Asn) c.6158G>A (p.Ser2053Asn) | dbSNP gnomAD v4 |
16 | g.3728889_3728917del | CA2573334478 | CREBBP | c.6136_6164del (p.Ala2046ArgfsTer?) c.6022_6050del (p.Ala2008ArgfsTer?) c.6091_6119del (p.Ala2031ArgfsTer?) c.5719_5747del (p.Ala1907ArgfsTer?) c.5875_5903del (p.Ala1959ArgfsTer?) c.6082_6110del (p.Ala2028ArgfsTer?) c.5383_5411del (p.Ala1795ArgfsTer?) c.6130_6158del (p.Ala2044ArgfsTer?) | dbSNP |
16 | g.3728884T>A | CA394554010 | CREBBP | c.6163A>T (p.Ser2055Cys) c.6049A>T (p.Ser2017Cys) c.6118A>T (p.Ser2040Cys) c.5746A>T (p.Ser1916Cys) c.5902A>T (p.Ser1968Cys) c.6109A>T (p.Ser2037Cys) c.5410A>T (p.Ser1804Cys) c.6157A>T (p.Ser2053Cys) | |
16 | g.3728884T>C | CA394554012 | CREBBP | c.6163A>G (p.Ser2055Gly) c.6049A>G (p.Ser2017Gly) c.6118A>G (p.Ser2040Gly) c.5746A>G (p.Ser1916Gly) c.5902A>G (p.Ser1968Gly) c.6109A>G (p.Ser2037Gly) c.5410A>G (p.Ser1804Gly) c.6157A>G (p.Ser2053Gly) | |
16 | g.3728884T>G | CA394554014 | CREBBP | c.6163A>C (p.Ser2055Arg) c.6049A>C (p.Ser2017Arg) c.6118A>C (p.Ser2040Arg) c.5746A>C (p.Ser1916Arg) c.5902A>C (p.Ser1968Arg) c.6109A>C (p.Ser2037Arg) c.5410A>C (p.Ser1804Arg) c.6157A>C (p.Ser2053Arg) | |
16 | g.3728885G>A | CA493393760 | CREBBP | c.6162C>T (p.Pro2054=) c.6048C>T (p.Pro2016=) c.6117C>T (p.Pro2039=) c.5745C>T (p.Pro1915=) c.5901C>T (p.Pro1967=) c.6108C>T (p.Pro2036=) c.5409C>T (p.Pro1803=) c.6156C>T (p.Pro2052=) | dbSNP |
16 | g.3728885G>C | CA493393761 | CREBBP | c.6162C>G (p.Pro2054=) c.6048C>G (p.Pro2016=) c.6117C>G (p.Pro2039=) c.5745C>G (p.Pro1915=) c.5901C>G (p.Pro1967=) c.6108C>G (p.Pro2036=) c.5409C>G (p.Pro1803=) c.6156C>G (p.Pro2052=) | dbSNP |
16 | g.3728885G>T | CA493393763 | CREBBP | c.6162C>A (p.Pro2054=) c.6048C>A (p.Pro2016=) c.6117C>A (p.Pro2039=) c.5745C>A (p.Pro1915=) c.5901C>A (p.Pro1967=) c.6108C>A (p.Pro2036=) c.5409C>A (p.Pro1803=) c.6156C>A (p.Pro2052=) | dbSNP gnomAD v4 |
16 | g.3728886G>A | CA394554016 | CREBBP | c.6161C>T (p.Pro2054Leu) c.6047C>T (p.Pro2016Leu) c.6116C>T (p.Pro2039Leu) c.5744C>T (p.Pro1915Leu) c.5900C>T (p.Pro1967Leu) c.6107C>T (p.Pro2036Leu) c.5408C>T (p.Pro1803Leu) c.6155C>T (p.Pro2052Leu) | ClinVar dbSNP |
16 | g.3728886G>C | CA394554018 | CREBBP | c.6161C>G (p.Pro2054Arg) c.6047C>G (p.Pro2016Arg) c.6116C>G (p.Pro2039Arg) c.5744C>G (p.Pro1915Arg) c.5900C>G (p.Pro1967Arg) c.6107C>G (p.Pro2036Arg) c.5408C>G (p.Pro1803Arg) c.6155C>G (p.Pro2052Arg) | dbSNP gnomAD v4 |
16 | g.3728886G>T | CA394554020 | CREBBP | c.6161C>A (p.Pro2054His) c.6047C>A (p.Pro2016His) c.6116C>A (p.Pro2039His) c.5744C>A (p.Pro1915His) c.5900C>A (p.Pro1967His) c.6107C>A (p.Pro2036His) c.5408C>A (p.Pro1803His) c.6155C>A (p.Pro2052His) | |
16 | g.3728887G>A | CA394554026 | CREBBP | c.6160C>T (p.Pro2054Ser) c.6046C>T (p.Pro2016Ser) c.6115C>T (p.Pro2039Ser) c.5743C>T (p.Pro1915Ser) c.5899C>T (p.Pro1967Ser) c.6106C>T (p.Pro2036Ser) c.5407C>T (p.Pro1803Ser) c.6154C>T (p.Pro2052Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728887G>C | CA394554022 | CREBBP | c.6160C>G (p.Pro2054Ala) c.6046C>G (p.Pro2016Ala) c.6115C>G (p.Pro2039Ala) c.5743C>G (p.Pro1915Ala) c.5899C>G (p.Pro1967Ala) c.6106C>G (p.Pro2036Ala) c.5407C>G (p.Pro1803Ala) c.6154C>G (p.Pro2052Ala) | dbSNP |
16 | g.3728887G= | CA2202916099 | CREBBP | c.6160C= (p.Pro2054=) c.6046C= (p.Pro2016=) c.6115C= (p.Pro2039=) c.5743C= (p.Pro1915=) c.5899C= (p.Pro1967=) c.6106C= (p.Pro2036=) c.5407C= (p.Pro1803=) c.6154C= (p.Pro2052=) | |
16 | g.3728887G>T | CA394554024 | CREBBP | c.6160C>A (p.Pro2054Thr) c.6046C>A (p.Pro2016Thr) c.6115C>A (p.Pro2039Thr) c.5743C>A (p.Pro1915Thr) c.5899C>A (p.Pro1967Thr) c.6106C>A (p.Pro2036Thr) c.5407C>A (p.Pro1803Thr) c.6154C>A (p.Pro2052Thr) | |
16 | g.3728888C>A | CA394554028 | CREBBP | c.6159G>T (p.Met2053Ile) c.6045G>T (p.Met2015Ile) c.6114G>T (p.Met2038Ile) c.5742G>T (p.Met1914Ile) c.5898G>T (p.Met1966Ile) c.6105G>T (p.Met2035Ile) c.5406G>T (p.Met1802Ile) c.6153G>T (p.Met2051Ile) | gnomAD v4 |
16 | g.3728888C>G | CA394554030 | CREBBP | c.6159G>C (p.Met2053Ile) c.6045G>C (p.Met2015Ile) c.6114G>C (p.Met2038Ile) c.5742G>C (p.Met1914Ile) c.5898G>C (p.Met1966Ile) c.6105G>C (p.Met2035Ile) c.5406G>C (p.Met1802Ile) c.6153G>C (p.Met2051Ile) | |
16 | g.3728888C>T | CA394554032 | CREBBP | c.6159G>A (p.Met2053Ile) c.6045G>A (p.Met2015Ile) c.6114G>A (p.Met2038Ile) c.5742G>A (p.Met1914Ile) c.5898G>A (p.Met1966Ile) c.6105G>A (p.Met2035Ile) c.5406G>A (p.Met1802Ile) c.6153G>A (p.Met2051Ile) | |
16 | g.3728889A>C | CA394554034 | CREBBP | c.6158T>G (p.Met2053Arg) c.6044T>G (p.Met2015Arg) c.6113T>G (p.Met2038Arg) c.5741T>G (p.Met1914Arg) c.5897T>G (p.Met1966Arg) c.6104T>G (p.Met2035Arg) c.5405T>G (p.Met1802Arg) c.6152T>G (p.Met2051Arg) | |
16 | g.3728889A>G | CA394554036 | CREBBP | c.6158T>C (p.Met2053Thr) c.6044T>C (p.Met2015Thr) c.6113T>C (p.Met2038Thr) c.5741T>C (p.Met1914Thr) c.5897T>C (p.Met1966Thr) c.6104T>C (p.Met2035Thr) c.5405T>C (p.Met1802Thr) c.6152T>C (p.Met2051Thr) | gnomAD v4 |
16 | g.3728889A>T | CA394554038 | CREBBP | c.6158T>A (p.Met2053Lys) c.6044T>A (p.Met2015Lys) c.6113T>A (p.Met2038Lys) c.5741T>A (p.Met1914Lys) c.5897T>A (p.Met1966Lys) c.6104T>A (p.Met2035Lys) c.5405T>A (p.Met1802Lys) c.6152T>A (p.Met2051Lys) | dbSNP |
16 | g.3728890T>A | CA394554040 | CREBBP | c.6157A>T (p.Met2053Leu) c.6043A>T (p.Met2015Leu) c.6112A>T (p.Met2038Leu) c.5740A>T (p.Met1914Leu) c.5896A>T (p.Met1966Leu) c.6103A>T (p.Met2035Leu) c.5404A>T (p.Met1802Leu) c.6151A>T (p.Met2051Leu) | dbSNP |
16 | g.3728890T>C | CA7869167 | CREBBP | c.6157A>G (p.Met2053Val) c.6043A>G (p.Met2015Val) c.6112A>G (p.Met2038Val) c.5740A>G (p.Met1914Val) c.5896A>G (p.Met1966Val) c.6103A>G (p.Met2035Val) c.5404A>G (p.Met1802Val) c.6151A>G (p.Met2051Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728890T>G | CA394554042 | CREBBP | c.6157A>C (p.Met2053Leu) c.6043A>C (p.Met2015Leu) c.6112A>C (p.Met2038Leu) c.5740A>C (p.Met1914Leu) c.5896A>C (p.Met1966Leu) c.6103A>C (p.Met2035Leu) c.5404A>C (p.Met1802Leu) c.6151A>C (p.Met2051Leu) | |
16 | g.3728890T= | CA2202916100 | CREBBP | c.6157A= (p.Met2053=) c.6043A= (p.Met2015=) c.6112A= (p.Met2038=) c.5740A= (p.Met1914=) c.5896A= (p.Met1966=) c.6103A= (p.Met2035=) c.5404A= (p.Met1802=) c.6151A= (p.Met2051=) | |
16 | g.3728891C>A | CA493393765 | CREBBP | c.6156G>T (p.Arg2052=) c.6042G>T (p.Arg2014=) c.6111G>T (p.Arg2037=) c.5739G>T (p.Arg1913=) c.5895G>T (p.Arg1965=) c.6102G>T (p.Arg2034=) c.5403G>T (p.Arg1801=) c.6150G>T (p.Arg2050=) | gnomAD v4 |
16 | g.3728891C>G | CA493393766 | CREBBP | c.6156G>C (p.Arg2052=) c.6042G>C (p.Arg2014=) c.6111G>C (p.Arg2037=) c.5739G>C (p.Arg1913=) c.5895G>C (p.Arg1965=) c.6102G>C (p.Arg2034=) c.5403G>C (p.Arg1801=) c.6150G>C (p.Arg2050=) | dbSNP gnomAD v4 |
16 | g.3728891C>T | CA493393767 | CREBBP | c.6156G>A (p.Arg2052=) c.6042G>A (p.Arg2014=) c.6111G>A (p.Arg2037=) c.5739G>A (p.Arg1913=) c.5895G>A (p.Arg1965=) c.6102G>A (p.Arg2034=) c.5403G>A (p.Arg1801=) c.6150G>A (p.Arg2050=) | dbSNP |
16 | g.3728892C>A | CA7869168 | CREBBP | c.6155G>T (p.Arg2052Leu) c.6041G>T (p.Arg2014Leu) c.6110G>T (p.Arg2037Leu) c.5738G>T (p.Arg1913Leu) c.5894G>T (p.Arg1965Leu) c.6101G>T (p.Arg2034Leu) c.5402G>T (p.Arg1801Leu) c.6149G>T (p.Arg2050Leu) | dbSNP ExAC gnomAD v4 |
16 | g.3728892C= | CA2202916101 | CREBBP | c.6155G= (p.Arg2052=) c.6041G= (p.Arg2014=) c.6110G= (p.Arg2037=) c.5738G= (p.Arg1913=) c.5894G= (p.Arg1965=) c.6101G= (p.Arg2034=) c.5402G= (p.Arg1801=) c.6149G= (p.Arg2050=) | |
16 | g.3728892C>G | CA394554046 | CREBBP | c.6155G>C (p.Arg2052Pro) c.6041G>C (p.Arg2014Pro) c.6110G>C (p.Arg2037Pro) c.5738G>C (p.Arg1913Pro) c.5894G>C (p.Arg1965Pro) c.6101G>C (p.Arg2034Pro) c.5402G>C (p.Arg1801Pro) c.6149G>C (p.Arg2050Pro) | dbSNP |
16 | g.3728892C>T | CA276971747 | CREBBP | c.6155G>A (p.Arg2052Gln) c.6041G>A (p.Arg2014Gln) c.6110G>A (p.Arg2037Gln) c.5738G>A (p.Arg1913Gln) c.5894G>A (p.Arg1965Gln) c.6101G>A (p.Arg2034Gln) c.5402G>A (p.Arg1801Gln) c.6149G>A (p.Arg2050Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728893G>A | CA394554050 | CREBBP | c.6154C>T (p.Arg2052Trp) c.6040C>T (p.Arg2014Trp) c.6109C>T (p.Arg2037Trp) c.5737C>T (p.Arg1913Trp) c.5893C>T (p.Arg1965Trp) c.6100C>T (p.Arg2034Trp) c.5401C>T (p.Arg1801Trp) c.6148C>T (p.Arg2050Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728893G>C | CA394554048 | CREBBP | c.6154C>G (p.Arg2052Gly) c.6040C>G (p.Arg2014Gly) c.6109C>G (p.Arg2037Gly) c.5737C>G (p.Arg1913Gly) c.5893C>G (p.Arg1965Gly) c.6100C>G (p.Arg2034Gly) c.5401C>G (p.Arg1801Gly) c.6148C>G (p.Arg2050Gly) | dbSNP gnomAD v4 |
16 | g.3728893G= | CA2202916102 | CREBBP | c.6154C= (p.Arg2052=) c.6040C= (p.Arg2014=) c.6109C= (p.Arg2037=) c.5737C= (p.Arg1913=) c.5893C= (p.Arg1965=) c.6100C= (p.Arg2034=) c.5401C= (p.Arg1801=) c.6148C= (p.Arg2050=) | |
16 | g.3728893G>T | CA493393791 | CREBBP | c.6154C>A (p.Arg2052=) c.6040C>A (p.Arg2014=) c.6109C>A (p.Arg2037=) c.5737C>A (p.Arg1913=) c.5893C>A (p.Arg1965=) c.6100C>A (p.Arg2034=) c.5401C>A (p.Arg1801=) c.6148C>A (p.Arg2050=) | dbSNP gnomAD v4 |
16 | g.3728894G>A | CA493393792 | CREBBP | c.6153C>T (p.Pro2051=) c.6039C>T (p.Pro2013=) c.6108C>T (p.Pro2036=) c.5736C>T (p.Pro1912=) c.5892C>T (p.Pro1964=) c.6099C>T (p.Pro2033=) c.5400C>T (p.Pro1800=) c.6147C>T (p.Pro2049=) | dbSNP gnomAD v2 |
16 | g.3728894G>C | CA493393793 | CREBBP | c.6153C>G (p.Pro2051=) c.6039C>G (p.Pro2013=) c.6108C>G (p.Pro2036=) c.5736C>G (p.Pro1912=) c.5892C>G (p.Pro1964=) c.6099C>G (p.Pro2033=) c.5400C>G (p.Pro1800=) c.6147C>G (p.Pro2049=) | dbSNP |
16 | g.3728894G= | CA2202916103 | CREBBP | c.6153C= (p.Pro2051=) c.6039C= (p.Pro2013=) c.6108C= (p.Pro2036=) c.5736C= (p.Pro1912=) c.5892C= (p.Pro1964=) c.6099C= (p.Pro2033=) c.5400C= (p.Pro1800=) c.6147C= (p.Pro2049=) | |
16 | g.3728894G>T | CA276971750 | CREBBP | c.6153C>A (p.Pro2051=) c.6039C>A (p.Pro2013=) c.6108C>A (p.Pro2036=) c.5736C>A (p.Pro1912=) c.5892C>A (p.Pro1964=) c.6099C>A (p.Pro2033=) c.5400C>A (p.Pro1800=) c.6147C>A (p.Pro2049=) | dbSNP |
16 | g.3728895G>A | CA394554053 | CREBBP | c.6152C>T (p.Pro2051Leu) c.6038C>T (p.Pro2013Leu) c.6107C>T (p.Pro2036Leu) c.5735C>T (p.Pro1912Leu) c.5891C>T (p.Pro1964Leu) c.6098C>T (p.Pro2033Leu) c.5399C>T (p.Pro1800Leu) c.6146C>T (p.Pro2049Leu) | gnomAD v4 |
16 | g.3728895G>C | CA394554057 | CREBBP | c.6152C>G (p.Pro2051Arg) c.6038C>G (p.Pro2013Arg) c.6107C>G (p.Pro2036Arg) c.5735C>G (p.Pro1912Arg) c.5891C>G (p.Pro1964Arg) c.6098C>G (p.Pro2033Arg) c.5399C>G (p.Pro1800Arg) c.6146C>G (p.Pro2049Arg) | gnomAD v4 |
16 | g.3728895G>T | CA394554054 | CREBBP | c.6152C>A (p.Pro2051His) c.6038C>A (p.Pro2013His) c.6107C>A (p.Pro2036His) c.5735C>A (p.Pro1912His) c.5891C>A (p.Pro1964His) c.6098C>A (p.Pro2033His) c.5399C>A (p.Pro1800His) c.6146C>A (p.Pro2049His) | gnomAD v4 COSMIC |
16 | g.3728896G>A | CA394554060 | CREBBP | c.6151C>T (p.Pro2051Ser) c.6037C>T (p.Pro2013Ser) c.6106C>T (p.Pro2036Ser) c.5734C>T (p.Pro1912Ser) c.5890C>T (p.Pro1964Ser) c.6097C>T (p.Pro2033Ser) c.5398C>T (p.Pro1800Ser) c.6145C>T (p.Pro2049Ser) | |
16 | g.3728896G>C | CA394554061 | CREBBP | c.6151C>G (p.Pro2051Ala) c.6037C>G (p.Pro2013Ala) c.6106C>G (p.Pro2036Ala) c.5734C>G (p.Pro1912Ala) c.5890C>G (p.Pro1964Ala) c.6097C>G (p.Pro2033Ala) c.5398C>G (p.Pro1800Ala) c.6145C>G (p.Pro2049Ala) | gnomAD v4 |
16 | g.3728896G>T | CA394554063 | CREBBP | c.6151C>A (p.Pro2051Thr) c.6037C>A (p.Pro2013Thr) c.6106C>A (p.Pro2036Thr) c.5734C>A (p.Pro1912Thr) c.5890C>A (p.Pro1964Thr) c.6097C>A (p.Pro2033Thr) c.5398C>A (p.Pro1800Thr) c.6145C>A (p.Pro2049Thr) | gnomAD v4 |
16 | g.3728897C>A | CA493393798 | CREBBP | c.6150G>T (p.Gly2050=) c.6036G>T (p.Gly2012=) c.6105G>T (p.Gly2035=) c.5733G>T (p.Gly1911=) c.5889G>T (p.Gly1963=) c.6096G>T (p.Gly2032=) c.5397G>T (p.Gly1799=) c.6144G>T (p.Gly2048=) | |
16 | g.3728897C>G | CA493393799 | CREBBP | c.6150G>C (p.Gly2050=) c.6036G>C (p.Gly2012=) c.6105G>C (p.Gly2035=) c.5733G>C (p.Gly1911=) c.5889G>C (p.Gly1963=) c.6096G>C (p.Gly2032=) c.5397G>C (p.Gly1799=) c.6144G>C (p.Gly2048=) | |
16 | g.3728897C>T | CA493393800 | CREBBP | c.6150G>A (p.Gly2050=) c.6036G>A (p.Gly2012=) c.6105G>A (p.Gly2035=) c.5733G>A (p.Gly1911=) c.5889G>A (p.Gly1963=) c.6096G>A (p.Gly2032=) c.5397G>A (p.Gly1799=) c.6144G>A (p.Gly2048=) | |
16 | g.3728899dup | CA645575156 | CREBBP | c.6150dup (p.Pro2051AlafsTer?) c.6036dup (p.Pro2013AlafsTer?) c.6105dup (p.Pro2036AlafsTer?) c.5733dup (p.Pro1912AlafsTer?) c.5889dup (p.Pro1964AlafsTer?) c.6096dup (p.Pro2033AlafsTer?) c.5397dup (p.Pro1800AlafsTer?) c.6144dup (p.Pro2049AlafsTer?) | COSMIC |
16 | g.3728898C>A | CA394554064 | CREBBP | c.6149G>T (p.Gly2050Val) c.6035G>T (p.Gly2012Val) c.6104G>T (p.Gly2035Val) c.5732G>T (p.Gly1911Val) c.5888G>T (p.Gly1963Val) c.6095G>T (p.Gly2032Val) c.5396G>T (p.Gly1799Val) c.6143G>T (p.Gly2048Val) | dbSNP |
16 | g.3728898C= | CA2202916104 | CREBBP | c.6149G= (p.Gly2050=) c.6035G= (p.Gly2012=) c.6104G= (p.Gly2035=) c.5732G= (p.Gly1911=) c.5888G= (p.Gly1963=) c.6095G= (p.Gly2032=) c.5396G= (p.Gly1799=) c.6143G= (p.Gly2048=) | |
16 | g.3728898C>G | CA394554065 | CREBBP | c.6149G>C (p.Gly2050Ala) c.6035G>C (p.Gly2012Ala) c.6104G>C (p.Gly2035Ala) c.5732G>C (p.Gly1911Ala) c.5888G>C (p.Gly1963Ala) c.6095G>C (p.Gly2032Ala) c.5396G>C (p.Gly1799Ala) c.6143G>C (p.Gly2048Ala) | dbSNP |
16 | g.3728898C>T | CA394554067 | CREBBP | c.6149G>A (p.Gly2050Glu) c.6035G>A (p.Gly2012Glu) c.6104G>A (p.Gly2035Glu) c.5732G>A (p.Gly1911Glu) c.5888G>A (p.Gly1963Glu) c.6095G>A (p.Gly2032Glu) c.5396G>A (p.Gly1799Glu) c.6143G>A (p.Gly2048Glu) | dbSNP gnomAD v2 |
16 | g.3728899C>A | CA394554069 | CREBBP | c.6148G>T (p.Gly2050Trp) c.6034G>T (p.Gly2012Trp) c.6103G>T (p.Gly2035Trp) c.5731G>T (p.Gly1911Trp) c.5887G>T (p.Gly1963Trp) c.6094G>T (p.Gly2032Trp) c.5395G>T (p.Gly1799Trp) c.6142G>T (p.Gly2048Trp) | |
16 | g.3728899C= | CA2202916105 | CREBBP | c.6148G= (p.Gly2050=) c.6034G= (p.Gly2012=) c.6103G= (p.Gly2035=) c.5731G= (p.Gly1911=) c.5887G= (p.Gly1963=) c.6094G= (p.Gly2032=) c.5395G= (p.Gly1799=) c.6142G= (p.Gly2048=) | |
16 | g.3728899C>G | CA394554070 | CREBBP | c.6148G>C (p.Gly2050Arg) c.6034G>C (p.Gly2012Arg) c.6103G>C (p.Gly2035Arg) c.5731G>C (p.Gly1911Arg) c.5887G>C (p.Gly1963Arg) c.6094G>C (p.Gly2032Arg) c.5395G>C (p.Gly1799Arg) c.6142G>C (p.Gly2048Arg) | dbSNP |
16 | g.3728899C>T | CA7869169 | CREBBP | c.6148G>A (p.Gly2050Arg) c.6034G>A (p.Gly2012Arg) c.6103G>A (p.Gly2035Arg) c.5731G>A (p.Gly1911Arg) c.5887G>A (p.Gly1963Arg) c.6094G>A (p.Gly2032Arg) c.5395G>A (p.Gly1799Arg) c.6142G>A (p.Gly2048Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728900A>C | CA493393801 | CREBBP | c.6147T>G (p.Ala2049=) c.6033T>G (p.Ala2011=) c.6102T>G (p.Ala2034=) c.5730T>G (p.Ala1910=) c.5886T>G (p.Ala1962=) c.6093T>G (p.Ala2031=) c.5394T>G (p.Ala1798=) c.6141T>G (p.Ala2047=) | dbSNP |
16 | g.3728900A>G | CA493393803 | CREBBP | c.6147T>C (p.Ala2049=) c.6033T>C (p.Ala2011=) c.6102T>C (p.Ala2034=) c.5730T>C (p.Ala1910=) c.5886T>C (p.Ala1962=) c.6093T>C (p.Ala2031=) c.5394T>C (p.Ala1798=) c.6141T>C (p.Ala2047=) | dbSNP |
16 | g.3728900A>T | CA493393802 | CREBBP | c.6147T>A (p.Ala2049=) c.6033T>A (p.Ala2011=) c.6102T>A (p.Ala2034=) c.5730T>A (p.Ala1910=) c.5886T>A (p.Ala1962=) c.6093T>A (p.Ala2031=) c.5394T>A (p.Ala1798=) c.6141T>A (p.Ala2047=) | dbSNP |
16 | g.3728901G>A | CA7869170 | CREBBP | c.6146C>T (p.Ala2049Val) c.6032C>T (p.Ala2011Val) c.6101C>T (p.Ala2034Val) c.5729C>T (p.Ala1910Val) c.5885C>T (p.Ala1962Val) c.6092C>T (p.Ala2031Val) c.5393C>T (p.Ala1798Val) c.6140C>T (p.Ala2047Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728901G>C | CA394554074 | CREBBP | c.6146C>G (p.Ala2049Gly) c.6032C>G (p.Ala2011Gly) c.6101C>G (p.Ala2034Gly) c.5729C>G (p.Ala1910Gly) c.5885C>G (p.Ala1962Gly) c.6092C>G (p.Ala2031Gly) c.5393C>G (p.Ala1798Gly) c.6140C>G (p.Ala2047Gly) | |
16 | g.3728901G= | CA2202916106 | CREBBP | c.6146C= (p.Ala2049=) c.6032C= (p.Ala2011=) c.6101C= (p.Ala2034=) c.5729C= (p.Ala1910=) c.5885C= (p.Ala1962=) c.6092C= (p.Ala2031=) c.5393C= (p.Ala1798=) c.6140C= (p.Ala2047=) | |
16 | g.3728901G>T | CA276971757 | CREBBP | c.6146C>A (p.Ala2049Asp) c.6032C>A (p.Ala2011Asp) c.6101C>A (p.Ala2034Asp) c.5729C>A (p.Ala1910Asp) c.5885C>A (p.Ala1962Asp) c.6092C>A (p.Ala2031Asp) c.5393C>A (p.Ala1798Asp) c.6140C>A (p.Ala2047Asp) | dbSNP gnomAD v4 COSMIC |
16 | g.3728902C>A | CA394554077 | CREBBP | c.6145G>T (p.Ala2049Ser) c.6031G>T (p.Ala2011Ser) c.6100G>T (p.Ala2034Ser) c.5728G>T (p.Ala1910Ser) c.5884G>T (p.Ala1962Ser) c.6091G>T (p.Ala2031Ser) c.5392G>T (p.Ala1798Ser) c.6139G>T (p.Ala2047Ser) | gnomAD v4 |
16 | g.3728902C= | CA2202916107 | CREBBP | c.6145G= (p.Ala2049=) c.6031G= (p.Ala2011=) c.6100G= (p.Ala2034=) c.5728G= (p.Ala1910=) c.5884G= (p.Ala1962=) c.6091G= (p.Ala2031=) c.5392G= (p.Ala1798=) c.6139G= (p.Ala2047=) | |
16 | g.3728902C>G | CA7869171 | CREBBP | c.6145G>C (p.Ala2049Pro) c.6031G>C (p.Ala2011Pro) c.6100G>C (p.Ala2034Pro) c.5728G>C (p.Ala1910Pro) c.5884G>C (p.Ala1962Pro) c.6091G>C (p.Ala2031Pro) c.5392G>C (p.Ala1798Pro) c.6139G>C (p.Ala2047Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728902C>T | CA394554079 | CREBBP | c.6145G>A (p.Ala2049Thr) c.6031G>A (p.Ala2011Thr) c.6100G>A (p.Ala2034Thr) c.5728G>A (p.Ala1910Thr) c.5884G>A (p.Ala1962Thr) c.6091G>A (p.Ala2031Thr) c.5392G>A (p.Ala1798Thr) c.6139G>A (p.Ala2047Thr) | gnomAD v4 |
16 | g.3728903del | CA2731850866 | CREBBP | c.6145del (p.Ala2049LeufsTer26) c.6031del (p.Ala2011LeufsTer26) c.6100del (p.Ala2034LeufsTer26) c.5728del (p.Ala1910LeufsTer26) c.5884del (p.Ala1962LeufsTer26) c.6091del (p.Ala2031LeufsTer26) c.5392del (p.Ala1798LeufsTer26) c.6139del (p.Ala2047LeufsTer26) | dbSNP |
16 | g.3728903C>A | CA493393807 | CREBBP | c.6144G>T (p.Val2048=) c.6030G>T (p.Val2010=) c.6099G>T (p.Val2033=) c.5727G>T (p.Val1909=) c.5883G>T (p.Val1961=) c.6090G>T (p.Val2030=) c.5391G>T (p.Val1797=) c.6138G>T (p.Val2046=) | |
16 | g.3728903C>G | CA493393808 | CREBBP | c.6144G>C (p.Val2048=) c.6030G>C (p.Val2010=) c.6099G>C (p.Val2033=) c.5727G>C (p.Val1909=) c.5883G>C (p.Val1961=) c.6090G>C (p.Val2030=) c.5391G>C (p.Val1797=) c.6138G>C (p.Val2046=) | dbSNP gnomAD v4 |
16 | g.3728903C>T | CA493393809 | CREBBP | c.6144G>A (p.Val2048=) c.6030G>A (p.Val2010=) c.6099G>A (p.Val2033=) c.5727G>A (p.Val1909=) c.5883G>A (p.Val1961=) c.6090G>A (p.Val2030=) c.5391G>A (p.Val1797=) c.6138G>A (p.Val2046=) | |
16 | g.3728904A>C | CA394554082 | CREBBP | c.6143T>G (p.Val2048Gly) c.6029T>G (p.Val2010Gly) c.6098T>G (p.Val2033Gly) c.5726T>G (p.Val1909Gly) c.5882T>G (p.Val1961Gly) c.6089T>G (p.Val2030Gly) c.5390T>G (p.Val1797Gly) c.6137T>G (p.Val2046Gly) | dbSNP |
16 | g.3728904A>G | CA394554084 | CREBBP | c.6143T>C (p.Val2048Ala) c.6029T>C (p.Val2010Ala) c.6098T>C (p.Val2033Ala) c.5726T>C (p.Val1909Ala) c.5882T>C (p.Val1961Ala) c.6089T>C (p.Val2030Ala) c.5390T>C (p.Val1797Ala) c.6137T>C (p.Val2046Ala) | dbSNP |
16 | g.3728904A>T | CA394554086 | CREBBP | c.6143T>A (p.Val2048Glu) c.6029T>A (p.Val2010Glu) c.6098T>A (p.Val2033Glu) c.5726T>A (p.Val1909Glu) c.5882T>A (p.Val1961Glu) c.6089T>A (p.Val2030Glu) c.5390T>A (p.Val1797Glu) c.6137T>A (p.Val2046Glu) | dbSNP |
16 | g.3728905C>A | CA394554088 | CREBBP | c.6142G>T (p.Val2048Leu) c.6028G>T (p.Val2010Leu) c.6097G>T (p.Val2033Leu) c.5725G>T (p.Val1909Leu) c.5881G>T (p.Val1961Leu) c.6088G>T (p.Val2030Leu) c.5389G>T (p.Val1797Leu) c.6136G>T (p.Val2046Leu) | gnomAD v4 |
16 | g.3728905C= | CA2202916108 | CREBBP | c.6142G= (p.Val2048=) c.6028G= (p.Val2010=) c.6097G= (p.Val2033=) c.5725G= (p.Val1909=) c.5881G= (p.Val1961=) c.6088G= (p.Val2030=) c.5389G= (p.Val1797=) c.6136G= (p.Val2046=) | |
16 | g.3728905C>G | CA394554090 | CREBBP | c.6142G>C (p.Val2048Leu) c.6028G>C (p.Val2010Leu) c.6097G>C (p.Val2033Leu) c.5725G>C (p.Val1909Leu) c.5881G>C (p.Val1961Leu) c.6088G>C (p.Val2030Leu) c.5389G>C (p.Val1797Leu) c.6136G>C (p.Val2046Leu) | dbSNP |
16 | g.3728905C>T | CA7869172 | CREBBP | c.6142G>A (p.Val2048Met) c.6028G>A (p.Val2010Met) c.6097G>A (p.Val2033Met) c.5725G>A (p.Val1909Met) c.5881G>A (p.Val1961Met) c.6088G>A (p.Val2030Met) c.5389G>A (p.Val1797Met) c.6136G>A (p.Val2046Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728905_3728906insT | CA645575157 | CREBBP | c.6141_6142insA (p.Val2048SerfsTer?) c.6027_6028insA (p.Val2010SerfsTer?) c.6096_6097insA (p.Val2033SerfsTer?) c.5724_5725insA (p.Val1909SerfsTer?) c.5880_5881insA (p.Val1961SerfsTer?) c.6087_6088insA (p.Val2030SerfsTer?) c.5388_5389insA (p.Val1797SerfsTer?) c.6135_6136insA (p.Val2046SerfsTer?) | COSMIC |
16 | g.3728906G>A | CA7869173 | CREBBP | c.6141C>T (p.Ala2047=) c.6027C>T (p.Ala2009=) c.6096C>T (p.Ala2032=) c.5724C>T (p.Ala1908=) c.5880C>T (p.Ala1960=) c.6087C>T (p.Ala2029=) c.5388C>T (p.Ala1796=) c.6135C>T (p.Ala2045=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728906G>C | CA493393815 | CREBBP | c.6141C>G (p.Ala2047=) c.6027C>G (p.Ala2009=) c.6096C>G (p.Ala2032=) c.5724C>G (p.Ala1908=) c.5880C>G (p.Ala1960=) c.6087C>G (p.Ala2029=) c.5388C>G (p.Ala1796=) c.6135C>G (p.Ala2045=) | |
16 | g.3728906G= | CA2202916109 | CREBBP | c.6141C= (p.Ala2047=) c.6027C= (p.Ala2009=) c.6096C= (p.Ala2032=) c.5724C= (p.Ala1908=) c.5880C= (p.Ala1960=) c.6087C= (p.Ala2029=) c.5388C= (p.Ala1796=) c.6135C= (p.Ala2045=) | |
16 | g.3728906G>T | CA493393816 | CREBBP | c.6141C>A (p.Ala2047=) c.6027C>A (p.Ala2009=) c.6096C>A (p.Ala2032=) c.5724C>A (p.Ala1908=) c.5880C>A (p.Ala1960=) c.6087C>A (p.Ala2029=) c.5388C>A (p.Ala1796=) c.6135C>A (p.Ala2045=) | gnomAD v4 |
16 | g.3728907G>A | CA394554095 | CREBBP | c.6140C>T (p.Ala2047Val) c.6026C>T (p.Ala2009Val) c.6095C>T (p.Ala2032Val) c.5723C>T (p.Ala1908Val) c.5879C>T (p.Ala1960Val) c.6086C>T (p.Ala2029Val) c.5387C>T (p.Ala1796Val) c.6134C>T (p.Ala2045Val) | dbSNP |
16 | g.3728907G>C | CA394554097 | CREBBP | c.6140C>G (p.Ala2047Gly) c.6026C>G (p.Ala2009Gly) c.6095C>G (p.Ala2032Gly) c.5723C>G (p.Ala1908Gly) c.5879C>G (p.Ala1960Gly) c.6086C>G (p.Ala2029Gly) c.5387C>G (p.Ala1796Gly) c.6134C>G (p.Ala2045Gly) | dbSNP |
16 | g.3728907G>T | CA394554098 | CREBBP | c.6140C>A (p.Ala2047Asp) c.6026C>A (p.Ala2009Asp) c.6095C>A (p.Ala2032Asp) c.5723C>A (p.Ala1908Asp) c.5879C>A (p.Ala1960Asp) c.6086C>A (p.Ala2029Asp) c.5387C>A (p.Ala1796Asp) c.6134C>A (p.Ala2045Asp) | dbSNP |
16 | g.3728908C>A | CA394554103 | CREBBP | c.6139G>T (p.Ala2047Ser) c.6025G>T (p.Ala2009Ser) c.6094G>T (p.Ala2032Ser) c.5722G>T (p.Ala1908Ser) c.5878G>T (p.Ala1960Ser) c.6085G>T (p.Ala2029Ser) c.5386G>T (p.Ala1796Ser) c.6133G>T (p.Ala2045Ser) | dbSNP |
16 | g.3728908C>G | CA394554104 | CREBBP | c.6139G>C (p.Ala2047Pro) c.6025G>C (p.Ala2009Pro) c.6094G>C (p.Ala2032Pro) c.5722G>C (p.Ala1908Pro) c.5878G>C (p.Ala1960Pro) c.6085G>C (p.Ala2029Pro) c.5386G>C (p.Ala1796Pro) c.6133G>C (p.Ala2045Pro) | dbSNP |
16 | g.3728908C>T | CA394554101 | CREBBP | c.6139G>A (p.Ala2047Thr) c.6025G>A (p.Ala2009Thr) c.6094G>A (p.Ala2032Thr) c.5722G>A (p.Ala1908Thr) c.5878G>A (p.Ala1960Thr) c.6085G>A (p.Ala2029Thr) c.5386G>A (p.Ala1796Thr) c.6133G>A (p.Ala2045Thr) | dbSNP |
16 | g.3728909C>A | CA7869175 | CREBBP | c.6138G>T (p.Ala2046=) c.6024G>T (p.Ala2008=) c.6093G>T (p.Ala2031=) c.5721G>T (p.Ala1907=) c.5877G>T (p.Ala1959=) c.6084G>T (p.Ala2028=) c.5385G>T (p.Ala1795=) c.6132G>T (p.Ala2044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728909C= | CA2202916111 | CREBBP | c.6138G= (p.Ala2046=) c.6024G= (p.Ala2008=) c.6093G= (p.Ala2031=) c.5721G= (p.Ala1907=) c.5877G= (p.Ala1959=) c.6084G= (p.Ala2028=) c.5385G= (p.Ala1795=) c.6132G= (p.Ala2044=) | |
16 | g.3728909C>G | CA493393818 | CREBBP | c.6138G>C (p.Ala2046=) c.6024G>C (p.Ala2008=) c.6093G>C (p.Ala2031=) c.5721G>C (p.Ala1907=) c.5877G>C (p.Ala1959=) c.6084G>C (p.Ala2028=) c.5385G>C (p.Ala1795=) c.6132G>C (p.Ala2044=) | |
16 | g.3728909C>T | CA7869174 | CREBBP | c.6138G>A (p.Ala2046=) c.6024G>A (p.Ala2008=) c.6093G>A (p.Ala2031=) c.5721G>A (p.Ala1907=) c.5877G>A (p.Ala1959=) c.6084G>A (p.Ala2028=) c.5385G>A (p.Ala1795=) c.6132G>A (p.Ala2044=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAG | CA2202916110 | CREBBP | c.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=) c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=) c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=) c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=) c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=) c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=) c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=) c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=) | |
16 | g.3728910G>A | CA7869177 | CREBBP | c.6137C>T (p.Ala2046Val) c.6023C>T (p.Ala2008Val) c.6092C>T (p.Ala2031Val) c.5720C>T (p.Ala1907Val) c.5876C>T (p.Ala1959Val) c.6083C>T (p.Ala2028Val) c.5384C>T (p.Ala1795Val) c.6131C>T (p.Ala2044Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728910G>C | CA394554108 | CREBBP | c.6137C>G (p.Ala2046Gly) c.6023C>G (p.Ala2008Gly) c.6092C>G (p.Ala2031Gly) c.5720C>G (p.Ala1907Gly) c.5876C>G (p.Ala1959Gly) c.6083C>G (p.Ala2028Gly) c.5384C>G (p.Ala1795Gly) c.6131C>G (p.Ala2044Gly) | dbSNP |
16 | g.3728910G= | CA2202916112 | CREBBP | c.6137C= (p.Ala2046=) c.6023C= (p.Ala2008=) c.6092C= (p.Ala2031=) c.5720C= (p.Ala1907=) c.5876C= (p.Ala1959=) c.6083C= (p.Ala2028=) c.5384C= (p.Ala1795=) c.6131C= (p.Ala2044=) | |
16 | g.3728910G>T | CA7869176 | CREBBP | c.6137C>A (p.Ala2046Glu) c.6023C>A (p.Ala2008Glu) c.6092C>A (p.Ala2031Glu) c.5720C>A (p.Ala1907Glu) c.5876C>A (p.Ala1959Glu) c.6083C>A (p.Ala2028Glu) c.5384C>A (p.Ala1795Glu) c.6131C>A (p.Ala2044Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728918_3728942dup | CA915949062 | CREBBP | c.6113_6137dup (p.Ala2047CysfsTer?) c.5999_6023dup (p.Ala2009CysfsTer?) c.6068_6092dup (p.Ala2032CysfsTer?) c.5696_5720dup (p.Ala1908CysfsTer?) c.5852_5876dup (p.Ala1960CysfsTer?) c.6059_6083dup (p.Ala2029CysfsTer?) c.5360_5384dup (p.Ala1796CysfsTer?) c.6107_6131dup (p.Ala2045CysfsTer?) | ClinVar dbSNP |
16 | g.3728918_3728942del | CA915949063 | CREBBP | c.6113_6137del (p.Pro2038ArgfsTer29) c.5999_6023del (p.Pro2000ArgfsTer29) c.6068_6092del (p.Pro2023ArgfsTer29) c.5696_5720del (p.Pro1899ArgfsTer29) c.5852_5876del (p.Pro1951ArgfsTer29) c.6059_6083del (p.Pro2020ArgfsTer29) c.5360_5384del (p.Pro1787ArgfsTer29) c.6107_6131del (p.Pro2036ArgfsTer29) | ClinVar dbSNP |
16 | g.3728911C>A | CA394554111 | CREBBP | c.6136G>T (p.Ala2046Ser) c.6022G>T (p.Ala2008Ser) c.6091G>T (p.Ala2031Ser) c.5719G>T (p.Ala1907Ser) c.5875G>T (p.Ala1959Ser) c.6082G>T (p.Ala2028Ser) c.5383G>T (p.Ala1795Ser) c.6130G>T (p.Ala2044Ser) | gnomAD v4 |
16 | g.3728911C>G | CA394554113 | CREBBP | c.6136G>C (p.Ala2046Pro) c.6022G>C (p.Ala2008Pro) c.6091G>C (p.Ala2031Pro) c.5719G>C (p.Ala1907Pro) c.5875G>C (p.Ala1959Pro) c.6082G>C (p.Ala2028Pro) c.5383G>C (p.Ala1795Pro) c.6130G>C (p.Ala2044Pro) | dbSNP |
16 | g.3728911C>T | CA394554115 | CREBBP | c.6136G>A (p.Ala2046Thr) c.6022G>A (p.Ala2008Thr) c.6091G>A (p.Ala2031Thr) c.5719G>A (p.Ala1907Thr) c.5875G>A (p.Ala1959Thr) c.6082G>A (p.Ala2028Thr) c.5383G>A (p.Ala1795Thr) c.6130G>A (p.Ala2044Thr) | |
16 | g.3728912C>A | CA394554117 | CREBBP | c.6135G>T (p.Gln2045His) c.6021G>T (p.Gln2007His) c.6090G>T (p.Gln2030His) c.5718G>T (p.Gln1906His) c.5874G>T (p.Gln1958His) c.6081G>T (p.Gln2027His) c.5382G>T (p.Gln1794His) c.6129G>T (p.Gln2043His) | |
16 | g.3728912C>G | CA394554119 | CREBBP | c.6135G>C (p.Gln2045His) c.6021G>C (p.Gln2007His) c.6090G>C (p.Gln2030His) c.5718G>C (p.Gln1906His) c.5874G>C (p.Gln1958His) c.6081G>C (p.Gln2027His) c.5382G>C (p.Gln1794His) c.6129G>C (p.Gln2043His) | dbSNP |
16 | g.3728912C>T | CA493393823 | CREBBP | c.6135G>A (p.Gln2045=) c.6021G>A (p.Gln2007=) c.6090G>A (p.Gln2030=) c.5718G>A (p.Gln1906=) c.5874G>A (p.Gln1958=) c.6081G>A (p.Gln2027=) c.5382G>A (p.Gln1794=) c.6129G>A (p.Gln2043=) | dbSNP |
16 | g.3728913T>A | CA394554120 | CREBBP | c.6134A>T (p.Gln2045Leu) c.6020A>T (p.Gln2007Leu) c.6089A>T (p.Gln2030Leu) c.5717A>T (p.Gln1906Leu) c.5873A>T (p.Gln1958Leu) c.6080A>T (p.Gln2027Leu) c.5381A>T (p.Gln1794Leu) c.6128A>T (p.Gln2043Leu) | dbSNP |
16 | g.3728913T>C | CA394554121 | CREBBP | c.6134A>G (p.Gln2045Arg) c.6020A>G (p.Gln2007Arg) c.6089A>G (p.Gln2030Arg) c.5717A>G (p.Gln1906Arg) c.5873A>G (p.Gln1958Arg) c.6080A>G (p.Gln2027Arg) c.5381A>G (p.Gln1794Arg) c.6128A>G (p.Gln2043Arg) | |
16 | g.3728913T>G | CA394554122 | CREBBP | c.6134A>C (p.Gln2045Pro) c.6020A>C (p.Gln2007Pro) c.6089A>C (p.Gln2030Pro) c.5717A>C (p.Gln1906Pro) c.5873A>C (p.Gln1958Pro) c.6080A>C (p.Gln2027Pro) c.5381A>C (p.Gln1794Pro) c.6128A>C (p.Gln2043Pro) | |
16 | g.3728914G>A | CA394554128 | CREBBP | c.6133C>T (p.Gln2045Ter) c.6019C>T (p.Gln2007Ter) c.6088C>T (p.Gln2030Ter) c.5716C>T (p.Gln1906Ter) c.5872C>T (p.Gln1958Ter) c.6079C>T (p.Gln2027Ter) c.5380C>T (p.Gln1794Ter) c.6127C>T (p.Gln2043Ter) | ClinVar dbSNP |
16 | g.3728914G>C | CA394554126 | CREBBP | c.6133C>G (p.Gln2045Glu) c.6019C>G (p.Gln2007Glu) c.6088C>G (p.Gln2030Glu) c.5716C>G (p.Gln1906Glu) c.5872C>G (p.Gln1958Glu) c.6079C>G (p.Gln2027Glu) c.5380C>G (p.Gln1794Glu) c.6127C>G (p.Gln2043Glu) | dbSNP |
16 | g.3728914G>T | CA394554124 | CREBBP | c.6133C>A (p.Gln2045Lys) c.6019C>A (p.Gln2007Lys) c.6088C>A (p.Gln2030Lys) c.5716C>A (p.Gln1906Lys) c.5872C>A (p.Gln1958Lys) c.6079C>A (p.Gln2027Lys) c.5380C>A (p.Gln1794Lys) c.6127C>A (p.Gln2043Lys) | dbSNP |
16 | g.3728916del | CA2840860805 | CREBBP | c.6133del (p.Gln2045ArgfsTer30) c.6019del (p.Gln2007ArgfsTer30) c.6088del (p.Gln2030ArgfsTer30) c.5716del (p.Gln1906ArgfsTer30) c.5872del (p.Gln1958ArgfsTer30) c.6079del (p.Gln2027ArgfsTer30) c.5380del (p.Gln1794ArgfsTer30) c.6127del (p.Gln2043ArgfsTer30) | |
16 | g.3728915G>A | CA493393824 | CREBBP | c.6132C>T (p.Ala2044=) c.6018C>T (p.Ala2006=) c.6087C>T (p.Ala2029=) c.5715C>T (p.Ala1905=) c.5871C>T (p.Ala1957=) c.6078C>T (p.Ala2026=) c.5379C>T (p.Ala1793=) c.6126C>T (p.Ala2042=) | dbSNP |
16 | g.3728915G>C | CA493393825 | CREBBP | c.6132C>G (p.Ala2044=) c.6018C>G (p.Ala2006=) c.6087C>G (p.Ala2029=) c.5715C>G (p.Ala1905=) c.5871C>G (p.Ala1957=) c.6078C>G (p.Ala2026=) c.5379C>G (p.Ala1793=) c.6126C>G (p.Ala2042=) | dbSNP |
16 | g.3728915G>T | CA493393826 | CREBBP | c.6132C>A (p.Ala2044=) c.6018C>A (p.Ala2006=) c.6087C>A (p.Ala2029=) c.5715C>A (p.Ala1905=) c.5871C>A (p.Ala1957=) c.6078C>A (p.Ala2026=) c.5379C>A (p.Ala1793=) c.6126C>A (p.Ala2042=) | dbSNP gnomAD v4 COSMIC |
16 | g.3728916G>A | CA7869178 | CREBBP | c.6131C>T (p.Ala2044Val) c.6017C>T (p.Ala2006Val) c.6086C>T (p.Ala2029Val) c.5714C>T (p.Ala1905Val) c.5870C>T (p.Ala1957Val) c.6077C>T (p.Ala2026Val) c.5378C>T (p.Ala1793Val) c.6125C>T (p.Ala2042Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728916G>C | CA394554131 | CREBBP | c.6131C>G (p.Ala2044Gly) c.6017C>G (p.Ala2006Gly) c.6086C>G (p.Ala2029Gly) c.5714C>G (p.Ala1905Gly) c.5870C>G (p.Ala1957Gly) c.6077C>G (p.Ala2026Gly) c.5378C>G (p.Ala1793Gly) c.6125C>G (p.Ala2042Gly) | dbSNP |
16 | g.3728916G= | CA2202916113 | CREBBP | c.6131C= (p.Ala2044=) c.6017C= (p.Ala2006=) c.6086C= (p.Ala2029=) c.5714C= (p.Ala1905=) c.5870C= (p.Ala1957=) c.6077C= (p.Ala2026=) c.5378C= (p.Ala1793=) c.6125C= (p.Ala2042=) | |
16 | g.3728916G>T | CA394554133 | CREBBP | c.6131C>A (p.Ala2044Asp) c.6017C>A (p.Ala2006Asp) c.6086C>A (p.Ala2029Asp) c.5714C>A (p.Ala1905Asp) c.5870C>A (p.Ala1957Asp) c.6077C>A (p.Ala2026Asp) c.5378C>A (p.Ala1793Asp) c.6125C>A (p.Ala2042Asp) | dbSNP gnomAD v4 |
16 | g.3728917C>A | CA394554136 | CREBBP | c.6130G>T (p.Ala2044Ser) c.6016G>T (p.Ala2006Ser) c.6085G>T (p.Ala2029Ser) c.5713G>T (p.Ala1905Ser) c.5869G>T (p.Ala1957Ser) c.6076G>T (p.Ala2026Ser) c.5377G>T (p.Ala1793Ser) c.6124G>T (p.Ala2042Ser) | dbSNP gnomAD v4 COSMIC |
16 | g.3728917C= | CA2202916114 | CREBBP | c.6130G= (p.Ala2044=) c.6016G= (p.Ala2006=) c.6085G= (p.Ala2029=) c.5713G= (p.Ala1905=) c.5869G= (p.Ala1957=) c.6076G= (p.Ala2026=) c.5377G= (p.Ala1793=) c.6124G= (p.Ala2042=) | |
16 | g.3728917C>G | CA394554137 | CREBBP | c.6130G>C (p.Ala2044Pro) c.6016G>C (p.Ala2006Pro) c.6085G>C (p.Ala2029Pro) c.5713G>C (p.Ala1905Pro) c.5869G>C (p.Ala1957Pro) c.6076G>C (p.Ala2026Pro) c.5377G>C (p.Ala1793Pro) c.6124G>C (p.Ala2042Pro) | dbSNP |
16 | g.3728917C>T | CA394554139 | CREBBP | c.6130G>A (p.Ala2044Thr) c.6016G>A (p.Ala2006Thr) c.6085G>A (p.Ala2029Thr) c.5713G>A (p.Ala1905Thr) c.5869G>A (p.Ala1957Thr) c.6076G>A (p.Ala2026Thr) c.5377G>A (p.Ala1793Thr) c.6124G>A (p.Ala2042Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728918C>A | CA394554142 | CREBBP | c.6129G>T (p.Gln2043His) c.6015G>T (p.Gln2005His) c.6084G>T (p.Gln2028His) c.5712G>T (p.Gln1904His) c.5868G>T (p.Gln1956His) c.6075G>T (p.Gln2025His) c.5376G>T (p.Gln1792His) c.6123G>T (p.Gln2041His) | |
16 | g.3728918C>G | CA394554143 | CREBBP | c.6129G>C (p.Gln2043His) c.6015G>C (p.Gln2005His) c.6084G>C (p.Gln2028His) c.5712G>C (p.Gln1904His) c.5868G>C (p.Gln1956His) c.6075G>C (p.Gln2025His) c.5376G>C (p.Gln1792His) c.6123G>C (p.Gln2041His) | dbSNP |
16 | g.3728918C>T | CA493393827 | CREBBP | c.6129G>A (p.Gln2043=) c.6015G>A (p.Gln2005=) c.6084G>A (p.Gln2028=) c.5712G>A (p.Gln1904=) c.5868G>A (p.Gln1956=) c.6075G>A (p.Gln2025=) c.5376G>A (p.Gln1792=) c.6123G>A (p.Gln2041=) | gnomAD v4 |
16 | g.3728919T>A | CA394554144 | CREBBP | c.6128A>T (p.Gln2043Leu) c.6014A>T (p.Gln2005Leu) c.6083A>T (p.Gln2028Leu) c.5711A>T (p.Gln1904Leu) c.5867A>T (p.Gln1956Leu) c.6074A>T (p.Gln2025Leu) c.5375A>T (p.Gln1792Leu) c.6122A>T (p.Gln2041Leu) | dbSNP |
16 | g.3728919T>C | CA394554146 | CREBBP | c.6128A>G (p.Gln2043Arg) c.6014A>G (p.Gln2005Arg) c.6083A>G (p.Gln2028Arg) c.5711A>G (p.Gln1904Arg) c.5867A>G (p.Gln1956Arg) c.6074A>G (p.Gln2025Arg) c.5375A>G (p.Gln1792Arg) c.6122A>G (p.Gln2041Arg) | dbSNP gnomAD v4 |
16 | g.3728919T>G | CA394554148 | CREBBP | c.6128A>C (p.Gln2043Pro) c.6014A>C (p.Gln2005Pro) c.6083A>C (p.Gln2028Pro) c.5711A>C (p.Gln1904Pro) c.5867A>C (p.Gln1956Pro) c.6074A>C (p.Gln2025Pro) c.5375A>C (p.Gln1792Pro) c.6122A>C (p.Gln2041Pro) | dbSNP |
16 | g.3728920G>A | CA394554150 | CREBBP | c.6127C>T (p.Gln2043Ter) c.6013C>T (p.Gln2005Ter) c.6082C>T (p.Gln2028Ter) c.5710C>T (p.Gln1904Ter) c.5866C>T (p.Gln1956Ter) c.6073C>T (p.Gln2025Ter) c.5374C>T (p.Gln1792Ter) c.6121C>T (p.Gln2041Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728920G>C | CA394554152 | CREBBP | c.6127C>G (p.Gln2043Glu) c.6013C>G (p.Gln2005Glu) c.6082C>G (p.Gln2028Glu) c.5710C>G (p.Gln1904Glu) c.5866C>G (p.Gln1956Glu) c.6073C>G (p.Gln2025Glu) c.5374C>G (p.Gln1792Glu) c.6121C>G (p.Gln2041Glu) | dbSNP |
16 | g.3728920G= | CA2202916115 | CREBBP | c.6127C= (p.Gln2043=) c.6013C= (p.Gln2005=) c.6082C= (p.Gln2028=) c.5710C= (p.Gln1904=) c.5866C= (p.Gln1956=) c.6073C= (p.Gln2025=) c.5374C= (p.Gln1792=) c.6121C= (p.Gln2041=) | |
16 | g.3728920G>T | CA394554154 | CREBBP | c.6127C>A (p.Gln2043Lys) c.6013C>A (p.Gln2005Lys) c.6082C>A (p.Gln2028Lys) c.5710C>A (p.Gln1904Lys) c.5866C>A (p.Gln1956Lys) c.6073C>A (p.Gln2025Lys) c.5374C>A (p.Gln1792Lys) c.6121C>A (p.Gln2041Lys) | gnomAD v4 |
16 | g.3728921C>A | CA276971775 | CREBBP | c.6126G>T (p.Met2042Ile) c.6012G>T (p.Met2004Ile) c.6081G>T (p.Met2027Ile) c.5709G>T (p.Met1903Ile) c.5865G>T (p.Met1955Ile) c.6072G>T (p.Met2024Ile) c.5373G>T (p.Met1791Ile) c.6120G>T (p.Met2040Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728921C= | CA2202916116 | CREBBP | c.6126G= (p.Met2042=) c.6012G= (p.Met2004=) c.6081G= (p.Met2027=) c.5709G= (p.Met1903=) c.5865G= (p.Met1955=) c.6072G= (p.Met2024=) c.5373G= (p.Met1791=) c.6120G= (p.Met2040=) | |
16 | g.3728921C>G | CA394554159 | CREBBP | c.6126G>C (p.Met2042Ile) c.6012G>C (p.Met2004Ile) c.6081G>C (p.Met2027Ile) c.5709G>C (p.Met1903Ile) c.5865G>C (p.Met1955Ile) c.6072G>C (p.Met2024Ile) c.5373G>C (p.Met1791Ile) c.6120G>C (p.Met2040Ile) | dbSNP |
16 | g.3728921C>T | CA394554157 | CREBBP | c.6126G>A (p.Met2042Ile) c.6012G>A (p.Met2004Ile) c.6081G>A (p.Met2027Ile) c.5709G>A (p.Met1903Ile) c.5865G>A (p.Met1955Ile) c.6072G>A (p.Met2024Ile) c.5373G>A (p.Met1791Ile) c.6120G>A (p.Met2040Ile) | dbSNP gnomAD v4 |
16 | g.3728922A>C | CA394554163 | CREBBP | c.6125T>G (p.Met2042Arg) c.6011T>G (p.Met2004Arg) c.6080T>G (p.Met2027Arg) c.5708T>G (p.Met1903Arg) c.5864T>G (p.Met1955Arg) c.6071T>G (p.Met2024Arg) c.5372T>G (p.Met1791Arg) c.6119T>G (p.Met2040Arg) | |
16 | g.3728922A>G | CA394554166 | CREBBP | c.6125T>C (p.Met2042Thr) c.6011T>C (p.Met2004Thr) c.6080T>C (p.Met2027Thr) c.5708T>C (p.Met1903Thr) c.5864T>C (p.Met1955Thr) c.6071T>C (p.Met2024Thr) c.5372T>C (p.Met1791Thr) c.6119T>C (p.Met2040Thr) | gnomAD v4 |
16 | g.3728922A>T | CA394554164 | CREBBP | c.6125T>A (p.Met2042Lys) c.6011T>A (p.Met2004Lys) c.6080T>A (p.Met2027Lys) c.5708T>A (p.Met1903Lys) c.5864T>A (p.Met1955Lys) c.6071T>A (p.Met2024Lys) c.5372T>A (p.Met1791Lys) c.6119T>A (p.Met2040Lys) | |
16 | g.3728924_3728927del | CA2695222741 | CREBBP | c.6122_6125del (p.Ser2041CysfsTer?) c.6008_6011del (p.Ser2003CysfsTer?) c.6077_6080del (p.Ser2026CysfsTer?) c.5705_5708del (p.Ser1902CysfsTer?) c.5861_5864del (p.Ser1954CysfsTer?) c.6068_6071del (p.Ser2023CysfsTer?) c.5369_5372del (p.Ser1790CysfsTer?) c.6116_6119del (p.Ser2039CysfsTer?) | |
16 | g.3728923T>A | CA394554169 | CREBBP | c.6124A>T (p.Met2042Leu) c.6010A>T (p.Met2004Leu) c.6079A>T (p.Met2027Leu) c.5707A>T (p.Met1903Leu) c.5863A>T (p.Met1955Leu) c.6070A>T (p.Met2024Leu) c.5371A>T (p.Met1791Leu) c.6118A>T (p.Met2040Leu) | ClinVar |
16 | g.3728923T>C | CA394554172 | CREBBP | c.6124A>G (p.Met2042Val) c.6010A>G (p.Met2004Val) c.6079A>G (p.Met2027Val) c.5707A>G (p.Met1903Val) c.5863A>G (p.Met1955Val) c.6070A>G (p.Met2024Val) c.5371A>G (p.Met1791Val) c.6118A>G (p.Met2040Val) | |
16 | g.3728923T>G | CA394554170 | CREBBP | c.6124A>C (p.Met2042Leu) c.6010A>C (p.Met2004Leu) c.6079A>C (p.Met2027Leu) c.5707A>C (p.Met1903Leu) c.5863A>C (p.Met1955Leu) c.6070A>C (p.Met2024Leu) c.5371A>C (p.Met1791Leu) c.6118A>C (p.Met2040Leu) | |
16 | g.3728924G>A | CA7869179 | CREBBP | c.6123C>T (p.Ser2041=) c.6009C>T (p.Ser2003=) c.6078C>T (p.Ser2026=) c.5706C>T (p.Ser1902=) c.5862C>T (p.Ser1954=) c.6069C>T (p.Ser2023=) c.5370C>T (p.Ser1790=) c.6117C>T (p.Ser2039=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728924G>C | CA493393828 | CREBBP | c.6123C>G (p.Ser2041=) c.6009C>G (p.Ser2003=) c.6078C>G (p.Ser2026=) c.5706C>G (p.Ser1902=) c.5862C>G (p.Ser1954=) c.6069C>G (p.Ser2023=) c.5370C>G (p.Ser1790=) c.6117C>G (p.Ser2039=) | |
16 | g.3728924G= | CA2202916117 | CREBBP | c.6123C= (p.Ser2041=) c.6009C= (p.Ser2003=) c.6078C= (p.Ser2026=) c.5706C= (p.Ser1902=) c.5862C= (p.Ser1954=) c.6069C= (p.Ser2023=) c.5370C= (p.Ser1790=) c.6117C= (p.Ser2039=) | |
16 | g.3728924G>T | CA493393829 | CREBBP | c.6123C>A (p.Ser2041=) c.6009C>A (p.Ser2003=) c.6078C>A (p.Ser2026=) c.5706C>A (p.Ser1902=) c.5862C>A (p.Ser1954=) c.6069C>A (p.Ser2023=) c.5370C>A (p.Ser1790=) c.6117C>A (p.Ser2039=) | dbSNP |
16 | g.3728925del | CA2740093245 | CREBBP | c.6123del (p.Met2042CysfsTer?) c.6009del (p.Met2004CysfsTer?) c.6078del (p.Met2027CysfsTer?) c.5706del (p.Met1903CysfsTer?) c.5862del (p.Met1955CysfsTer?) c.6069del (p.Met2024CysfsTer?) c.5370del (p.Met1791CysfsTer?) c.6117del (p.Met2040CysfsTer?) | ClinVar |
16 | g.3728925G>A | CA394554175 | CREBBP | c.6122C>T (p.Ser2041Phe) c.6008C>T (p.Ser2003Phe) c.6077C>T (p.Ser2026Phe) c.5705C>T (p.Ser1902Phe) c.5861C>T (p.Ser1954Phe) c.6068C>T (p.Ser2023Phe) c.5369C>T (p.Ser1790Phe) c.6116C>T (p.Ser2039Phe) | dbSNP gnomAD v4 |
16 | g.3728925G>C | CA394554176 | CREBBP | c.6122C>G (p.Ser2041Cys) c.6008C>G (p.Ser2003Cys) c.6077C>G (p.Ser2026Cys) c.5705C>G (p.Ser1902Cys) c.5861C>G (p.Ser1954Cys) c.6068C>G (p.Ser2023Cys) c.5369C>G (p.Ser1790Cys) c.6116C>G (p.Ser2039Cys) | dbSNP |
16 | g.3728925G>T | CA394554177 | CREBBP | c.6122C>A (p.Ser2041Tyr) c.6008C>A (p.Ser2003Tyr) c.6077C>A (p.Ser2026Tyr) c.5705C>A (p.Ser1902Tyr) c.5861C>A (p.Ser1954Tyr) c.6068C>A (p.Ser2023Tyr) c.5369C>A (p.Ser1790Tyr) c.6116C>A (p.Ser2039Tyr) | dbSNP |
16 | g.3728926A= | CA2202916118 | CREBBP | c.6121T= (p.Ser2041=) c.6007T= (p.Ser2003=) c.6076T= (p.Ser2026=) c.5704T= (p.Ser1902=) c.5860T= (p.Ser1954=) c.6067T= (p.Ser2023=) c.5368T= (p.Ser1790=) c.6115T= (p.Ser2039=) | |
16 | g.3728926A>C | CA7869180 | CREBBP | c.6121T>G (p.Ser2041Ala) c.6007T>G (p.Ser2003Ala) c.6076T>G (p.Ser2026Ala) c.5704T>G (p.Ser1902Ala) c.5860T>G (p.Ser1954Ala) c.6067T>G (p.Ser2023Ala) c.5368T>G (p.Ser1790Ala) c.6115T>G (p.Ser2039Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728926A>G | CA394554178 | CREBBP | c.6121T>C (p.Ser2041Pro) c.6007T>C (p.Ser2003Pro) c.6076T>C (p.Ser2026Pro) c.5704T>C (p.Ser1902Pro) c.5860T>C (p.Ser1954Pro) c.6067T>C (p.Ser2023Pro) c.5368T>C (p.Ser1790Pro) c.6115T>C (p.Ser2039Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728926A>T | CA394554179 | CREBBP | c.6121T>A (p.Ser2041Thr) c.6007T>A (p.Ser2003Thr) c.6076T>A (p.Ser2026Thr) c.5704T>A (p.Ser1902Thr) c.5860T>A (p.Ser1954Thr) c.6067T>A (p.Ser2023Thr) c.5368T>A (p.Ser1790Thr) c.6115T>A (p.Ser2039Thr) | |
16 | g.3728927T>A | CA493393830 | CREBBP | c.6120A>T (p.Ile2040=) c.6006A>T (p.Ile2002=) c.6075A>T (p.Ile2025=) c.5703A>T (p.Ile1901=) c.5859A>T (p.Ile1953=) c.6066A>T (p.Ile2022=) c.5367A>T (p.Ile1789=) c.6114A>T (p.Ile2038=) | dbSNP |
16 | g.3728927T>C | CA394554180 | CREBBP | c.6120A>G (p.Ile2040Met) c.6006A>G (p.Ile2002Met) c.6075A>G (p.Ile2025Met) c.5703A>G (p.Ile1901Met) c.5859A>G (p.Ile1953Met) c.6066A>G (p.Ile2022Met) c.5367A>G (p.Ile1789Met) c.6114A>G (p.Ile2038Met) | |
16 | g.3728927T>G | CA493393831 | CREBBP | c.6120A>C (p.Ile2040=) c.6006A>C (p.Ile2002=) c.6075A>C (p.Ile2025=) c.5703A>C (p.Ile1901=) c.5859A>C (p.Ile1953=) c.6066A>C (p.Ile2022=) c.5367A>C (p.Ile1789=) c.6114A>C (p.Ile2038=) | |
16 | g.3728927T= | CA2202916119 | CREBBP | c.6120A= (p.Ile2040=) c.6006A= (p.Ile2002=) c.6075A= (p.Ile2025=) c.5703A= (p.Ile1901=) c.5859A= (p.Ile1953=) c.6066A= (p.Ile2022=) c.5367A= (p.Ile1789=) c.6114A= (p.Ile2038=) | |
16 | g.3728928A= | CA2202916120 | CREBBP | c.6119T= (p.Ile2040=) c.6005T= (p.Ile2002=) c.6074T= (p.Ile2025=) c.5702T= (p.Ile1901=) c.5858T= (p.Ile1953=) c.6065T= (p.Ile2022=) c.5366T= (p.Ile1789=) c.6113T= (p.Ile2038=) | |
16 | g.3728928A>C | CA394554181 | CREBBP | c.6119T>G (p.Ile2040Arg) c.6005T>G (p.Ile2002Arg) c.6074T>G (p.Ile2025Arg) c.5702T>G (p.Ile1901Arg) c.5858T>G (p.Ile1953Arg) c.6065T>G (p.Ile2022Arg) c.5366T>G (p.Ile1789Arg) c.6113T>G (p.Ile2038Arg) | dbSNP |
16 | g.3728928A>G | CA394554182 | CREBBP | c.6119T>C (p.Ile2040Thr) c.6005T>C (p.Ile2002Thr) c.6074T>C (p.Ile2025Thr) c.5702T>C (p.Ile1901Thr) c.5858T>C (p.Ile1953Thr) c.6065T>C (p.Ile2022Thr) c.5366T>C (p.Ile1789Thr) c.6113T>C (p.Ile2038Thr) | ClinVar dbSNP |
16 | g.3728928A>T | CA7869181 | CREBBP | c.6119T>A (p.Ile2040Lys) c.6005T>A (p.Ile2002Lys) c.6074T>A (p.Ile2025Lys) c.5702T>A (p.Ile1901Lys) c.5858T>A (p.Ile1953Lys) c.6065T>A (p.Ile2022Lys) c.5366T>A (p.Ile1789Lys) c.6113T>A (p.Ile2038Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728929T>A | CA394554185 | CREBBP | c.6118A>T (p.Ile2040Leu) c.6004A>T (p.Ile2002Leu) c.6073A>T (p.Ile2025Leu) c.5701A>T (p.Ile1901Leu) c.5857A>T (p.Ile1953Leu) c.6064A>T (p.Ile2022Leu) c.5365A>T (p.Ile1789Leu) c.6112A>T (p.Ile2038Leu) | |
16 | g.3728929T>C | CA394554184 | CREBBP | c.6118A>G (p.Ile2040Val) c.6004A>G (p.Ile2002Val) c.6073A>G (p.Ile2025Val) c.5701A>G (p.Ile1901Val) c.5857A>G (p.Ile1953Val) c.6064A>G (p.Ile2022Val) c.5365A>G (p.Ile1789Val) c.6112A>G (p.Ile2038Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728929T>G | CA394554183 | CREBBP | c.6118A>C (p.Ile2040Leu) c.6004A>C (p.Ile2002Leu) c.6073A>C (p.Ile2025Leu) c.5701A>C (p.Ile1901Leu) c.5857A>C (p.Ile1953Leu) c.6064A>C (p.Ile2022Leu) c.5365A>C (p.Ile1789Leu) c.6112A>C (p.Ile2038Leu) | gnomAD v4 |
16 | g.3728929T= | CA2202916121 | CREBBP | c.6118A= (p.Ile2040=) c.6004A= (p.Ile2002=) c.6073A= (p.Ile2025=) c.5701A= (p.Ile1901=) c.5857A= (p.Ile1953=) c.6064A= (p.Ile2022=) c.5365A= (p.Ile1789=) c.6112A= (p.Ile2038=) | |
16 | g.3728930C>A | CA493393833 | CREBBP | c.6117G>T (p.Val2039=) c.6003G>T (p.Val2001=) c.6072G>T (p.Val2024=) c.5700G>T (p.Val1900=) c.5856G>T (p.Val1952=) c.6063G>T (p.Val2021=) c.5364G>T (p.Val1788=) c.6111G>T (p.Val2037=) | dbSNP |
16 | g.3728930C>G | CA493393834 | CREBBP | c.6117G>C (p.Val2039=) c.6003G>C (p.Val2001=) c.6072G>C (p.Val2024=) c.5700G>C (p.Val1900=) c.5856G>C (p.Val1952=) c.6063G>C (p.Val2021=) c.5364G>C (p.Val1788=) c.6111G>C (p.Val2037=) | dbSNP |
16 | g.3728930C>T | CA493393832 | CREBBP | c.6117G>A (p.Val2039=) c.6003G>A (p.Val2001=) c.6072G>A (p.Val2024=) c.5700G>A (p.Val1900=) c.5856G>A (p.Val1952=) c.6063G>A (p.Val2021=) c.5364G>A (p.Val1788=) c.6111G>A (p.Val2037=) | dbSNP |
16 | g.3728930_3728940delinsCACAGGCCTGG | CA2202916122 | CREBBP | c.6107_6117delinsCCAGGCCTGTG (p.Pro2036=) c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=) c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=) c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=) c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=) c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=) c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=) c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=) | |
16 | g.3728931A>C | CA394554186 | CREBBP | c.6116T>G (p.Val2039Gly) c.6002T>G (p.Val2001Gly) c.6071T>G (p.Val2024Gly) c.5699T>G (p.Val1900Gly) c.5855T>G (p.Val1952Gly) c.6062T>G (p.Val2021Gly) c.5363T>G (p.Val1788Gly) c.6110T>G (p.Val2037Gly) | dbSNP gnomAD v4 |
16 | g.3728931A>G | CA394554187 | CREBBP | c.6116T>C (p.Val2039Ala) c.6002T>C (p.Val2001Ala) c.6071T>C (p.Val2024Ala) c.5699T>C (p.Val1900Ala) c.5855T>C (p.Val1952Ala) c.6062T>C (p.Val2021Ala) c.5363T>C (p.Val1788Ala) c.6110T>C (p.Val2037Ala) | dbSNP gnomAD v4 |
16 | g.3728931A>T | CA394554188 | CREBBP | c.6116T>A (p.Val2039Glu) c.6002T>A (p.Val2001Glu) c.6071T>A (p.Val2024Glu) c.5699T>A (p.Val1900Glu) c.5855T>A (p.Val1952Glu) c.6062T>A (p.Val2021Glu) c.5363T>A (p.Val1788Glu) c.6110T>A (p.Val2037Glu) | dbSNP |
16 | g.3728931_3728940del | CA277328 | CREBBP | c.6107_6116del (p.Pro2036ArgfsTer?) c.5993_6002del (p.Pro1998ArgfsTer?) c.6062_6071del (p.Pro2021ArgfsTer?) c.5690_5699del (p.Pro1897ArgfsTer?) c.5846_5855del (p.Pro1949ArgfsTer?) c.6053_6062del (p.Pro2018ArgfsTer?) c.5354_5363del (p.Pro1785ArgfsTer?) c.6101_6110del (p.Pro2034ArgfsTer?) | ClinVar dbSNP |
16 | g.3728932C>A | CA394554189 | CREBBP | c.6115G>T (p.Val2039Leu) c.6001G>T (p.Val2001Leu) c.6070G>T (p.Val2024Leu) c.5698G>T (p.Val1900Leu) c.5854G>T (p.Val1952Leu) c.6061G>T (p.Val2021Leu) c.5362G>T (p.Val1788Leu) c.6109G>T (p.Val2037Leu) | dbSNP gnomAD v4 |
16 | g.3728932C= | CA2202916123 | CREBBP | c.6115G= (p.Val2039=) c.6001G= (p.Val2001=) c.6070G= (p.Val2024=) c.5698G= (p.Val1900=) c.5854G= (p.Val1952=) c.6061G= (p.Val2021=) c.5362G= (p.Val1788=) c.6109G= (p.Val2037=) | |
16 | g.3728932C>G | CA394554190 | CREBBP | c.6115G>C (p.Val2039Leu) c.6001G>C (p.Val2001Leu) c.6070G>C (p.Val2024Leu) c.5698G>C (p.Val1900Leu) c.5854G>C (p.Val1952Leu) c.6061G>C (p.Val2021Leu) c.5362G>C (p.Val1788Leu) c.6109G>C (p.Val2037Leu) | dbSNP |
16 | g.3728932C>T | CA394554191 | CREBBP | c.6115G>A (p.Val2039Met) c.6001G>A (p.Val2001Met) c.6070G>A (p.Val2024Met) c.5698G>A (p.Val1900Met) c.5854G>A (p.Val1952Met) c.6061G>A (p.Val2021Met) c.5362G>A (p.Val1788Met) c.6109G>A (p.Val2037Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728933A>C | CA493393837 | CREBBP | c.6114T>G (p.Pro2038=) c.6000T>G (p.Pro2000=) c.6069T>G (p.Pro2023=) c.5697T>G (p.Pro1899=) c.5853T>G (p.Pro1951=) c.6060T>G (p.Pro2020=) c.5361T>G (p.Pro1787=) c.6108T>G (p.Pro2036=) | dbSNP |
16 | g.3728933A>G | CA493393836 | CREBBP | c.6114T>C (p.Pro2038=) c.6000T>C (p.Pro2000=) c.6069T>C (p.Pro2023=) c.5697T>C (p.Pro1899=) c.5853T>C (p.Pro1951=) c.6060T>C (p.Pro2020=) c.5361T>C (p.Pro1787=) c.6108T>C (p.Pro2036=) | dbSNP gnomAD v4 |
16 | g.3728933A>T | CA493393835 | CREBBP | c.6114T>A (p.Pro2038=) c.6000T>A (p.Pro2000=) c.6069T>A (p.Pro2023=) c.5697T>A (p.Pro1899=) c.5853T>A (p.Pro1951=) c.6060T>A (p.Pro2020=) c.5361T>A (p.Pro1787=) c.6108T>A (p.Pro2036=) | dbSNP |
16 | g.3728934G>A | CA394554192 | CREBBP | c.6113C>T (p.Pro2038Leu) c.5999C>T (p.Pro2000Leu) c.6068C>T (p.Pro2023Leu) c.5696C>T (p.Pro1899Leu) c.5852C>T (p.Pro1951Leu) c.6059C>T (p.Pro2020Leu) c.5360C>T (p.Pro1787Leu) c.6107C>T (p.Pro2036Leu) | dbSNP |
16 | g.3728934G>C | CA394554193 | CREBBP | c.6113C>G (p.Pro2038Arg) c.5999C>G (p.Pro2000Arg) c.6068C>G (p.Pro2023Arg) c.5696C>G (p.Pro1899Arg) c.5852C>G (p.Pro1951Arg) c.6059C>G (p.Pro2020Arg) c.5360C>G (p.Pro1787Arg) c.6107C>G (p.Pro2036Arg) | |
16 | g.3728934G>T | CA394554194 | CREBBP | c.6113C>A (p.Pro2038His) c.5999C>A (p.Pro2000His) c.6068C>A (p.Pro2023His) c.5696C>A (p.Pro1899His) c.5852C>A (p.Pro1951His) c.6059C>A (p.Pro2020His) c.5360C>A (p.Pro1787His) c.6107C>A (p.Pro2036His) | dbSNP |
16 | g.3728935G>A | CA394554195 | CREBBP | c.6112C>T (p.Pro2038Ser) c.5998C>T (p.Pro2000Ser) c.6067C>T (p.Pro2023Ser) c.5695C>T (p.Pro1899Ser) c.5851C>T (p.Pro1951Ser) c.6058C>T (p.Pro2020Ser) c.5359C>T (p.Pro1787Ser) c.6106C>T (p.Pro2036Ser) | dbSNP |
16 | g.3728935G>C | CA394554196 | CREBBP | c.6112C>G (p.Pro2038Ala) c.5998C>G (p.Pro2000Ala) c.6067C>G (p.Pro2023Ala) c.5695C>G (p.Pro1899Ala) c.5851C>G (p.Pro1951Ala) c.6058C>G (p.Pro2020Ala) c.5359C>G (p.Pro1787Ala) c.6106C>G (p.Pro2036Ala) | dbSNP |
16 | g.3728935G>T | CA394554197 | CREBBP | c.6112C>A (p.Pro2038Thr) c.5998C>A (p.Pro2000Thr) c.6067C>A (p.Pro2023Thr) c.5695C>A (p.Pro1899Thr) c.5851C>A (p.Pro1951Thr) c.6058C>A (p.Pro2020Thr) c.5359C>A (p.Pro1787Thr) c.6106C>A (p.Pro2036Thr) | |
16 | g.3728936C>A | CA394554198 | CREBBP | c.6111G>T (p.Arg2037Ser) c.5997G>T (p.Arg1999Ser) c.6066G>T (p.Arg2022Ser) c.5694G>T (p.Arg1898Ser) c.5850G>T (p.Arg1950Ser) c.6057G>T (p.Arg2019Ser) c.5358G>T (p.Arg1786Ser) c.6105G>T (p.Arg2035Ser) | dbSNP gnomAD v4 |
16 | g.3728936C= | CA2202916124 | CREBBP | c.6111G= (p.Arg2037=) c.5997G= (p.Arg1999=) c.6066G= (p.Arg2022=) c.5694G= (p.Arg1898=) c.5850G= (p.Arg1950=) c.6057G= (p.Arg2019=) c.5358G= (p.Arg1786=) c.6105G= (p.Arg2035=) | |
16 | g.3728936C>G | CA394554199 | CREBBP | c.6111G>C (p.Arg2037Ser) c.5997G>C (p.Arg1999Ser) c.6066G>C (p.Arg2022Ser) c.5694G>C (p.Arg1898Ser) c.5850G>C (p.Arg1950Ser) c.6057G>C (p.Arg2019Ser) c.5358G>C (p.Arg1786Ser) c.6105G>C (p.Arg2035Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3728936C>T | CA493393838 | CREBBP | c.6111G>A (p.Arg2037=) c.5997G>A (p.Arg1999=) c.6066G>A (p.Arg2022=) c.5694G>A (p.Arg1898=) c.5850G>A (p.Arg1950=) c.6057G>A (p.Arg2019=) c.5358G>A (p.Arg1786=) c.6105G>A (p.Arg2035=) | dbSNP gnomAD v4 |
16 | g.3728937del | CA2825002417 | CREBBP | c.6111del (p.Arg2037SerfsTer3) c.5997del (p.Arg1999SerfsTer3) c.6066del (p.Arg2022SerfsTer3) c.5694del (p.Arg1898SerfsTer3) c.5850del (p.Arg1950SerfsTer3) c.6057del (p.Arg2019SerfsTer3) c.5358del (p.Arg1786SerfsTer3) c.6105del (p.Arg2035SerfsTer3) | ClinVar |
16 | g.3728937C>A | CA394554200 | CREBBP | c.6110G>T (p.Arg2037Met) c.5996G>T (p.Arg1999Met) c.6065G>T (p.Arg2022Met) c.5693G>T (p.Arg1898Met) c.5849G>T (p.Arg1950Met) c.6056G>T (p.Arg2019Met) c.5357G>T (p.Arg1786Met) c.6104G>T (p.Arg2035Met) | dbSNP gnomAD v4 |
16 | g.3728937C= | CA2202916125 | CREBBP | c.6110G= (p.Arg2037=) c.5996G= (p.Arg1999=) c.6065G= (p.Arg2022=) c.5693G= (p.Arg1898=) c.5849G= (p.Arg1950=) c.6056G= (p.Arg2019=) c.5357G= (p.Arg1786=) c.6104G= (p.Arg2035=) | |
16 | g.3728937C>G | CA394554201 | CREBBP | c.6110G>C (p.Arg2037Thr) c.5996G>C (p.Arg1999Thr) c.6065G>C (p.Arg2022Thr) c.5693G>C (p.Arg1898Thr) c.5849G>C (p.Arg1950Thr) c.6056G>C (p.Arg2019Thr) c.5357G>C (p.Arg1786Thr) c.6104G>C (p.Arg2035Thr) | dbSNP |
16 | g.3728937C>T | CA394554202 | CREBBP | c.6110G>A (p.Arg2037Lys) c.5996G>A (p.Arg1999Lys) c.6065G>A (p.Arg2022Lys) c.5693G>A (p.Arg1898Lys) c.5849G>A (p.Arg1950Lys) c.6056G>A (p.Arg2019Lys) c.5357G>A (p.Arg1786Lys) c.6104G>A (p.Arg2035Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728938T>A | CA394554203 | CREBBP | c.6109A>T (p.Arg2037Trp) c.5995A>T (p.Arg1999Trp) c.6064A>T (p.Arg2022Trp) c.5692A>T (p.Arg1898Trp) c.5848A>T (p.Arg1950Trp) c.6055A>T (p.Arg2019Trp) c.5356A>T (p.Arg1786Trp) c.6103A>T (p.Arg2035Trp) | |
16 | g.3728938T>C | CA394554204 | CREBBP | c.6109A>G (p.Arg2037Gly) c.5995A>G (p.Arg1999Gly) c.6064A>G (p.Arg2022Gly) c.5692A>G (p.Arg1898Gly) c.5848A>G (p.Arg1950Gly) c.6055A>G (p.Arg2019Gly) c.5356A>G (p.Arg1786Gly) c.6103A>G (p.Arg2035Gly) | ClinVar gnomAD v4 |
16 | g.3728938T>G | CA7869182 | CREBBP | c.6109A>C (p.Arg2037=) c.5995A>C (p.Arg1999=) c.6064A>C (p.Arg2022=) c.5692A>C (p.Arg1898=) c.5848A>C (p.Arg1950=) c.6055A>C (p.Arg2019=) c.5356A>C (p.Arg1786=) c.6103A>C (p.Arg2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728938T= | CA2202916126 | CREBBP | c.6109A= (p.Arg2037=) c.5995A= (p.Arg1999=) c.6064A= (p.Arg2022=) c.5692A= (p.Arg1898=) c.5848A= (p.Arg1950=) c.6055A= (p.Arg2019=) c.5356A= (p.Arg1786=) c.6103A= (p.Arg2035=) | |
16 | g.3728939G>A | CA493393839 | CREBBP | c.6108C>T (p.Pro2036=) c.5994C>T (p.Pro1998=) c.6063C>T (p.Pro2021=) c.5691C>T (p.Pro1897=) c.5847C>T (p.Pro1949=) c.6054C>T (p.Pro2018=) c.5355C>T (p.Pro1785=) c.6102C>T (p.Pro2034=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728939G>C | CA493393840 | CREBBP | c.6108C>G (p.Pro2036=) c.5994C>G (p.Pro1998=) c.6063C>G (p.Pro2021=) c.5691C>G (p.Pro1897=) c.5847C>G (p.Pro1949=) c.6054C>G (p.Pro2018=) c.5355C>G (p.Pro1785=) c.6102C>G (p.Pro2034=) | |
16 | g.3728939G= | CA2202916127 | CREBBP | c.6108C= (p.Pro2036=) c.5994C= (p.Pro1998=) c.6063C= (p.Pro2021=) c.5691C= (p.Pro1897=) c.5847C= (p.Pro1949=) c.6054C= (p.Pro2018=) c.5355C= (p.Pro1785=) c.6102C= (p.Pro2034=) | |
16 | g.3728939G>T | CA493393841 | CREBBP | c.6108C>A (p.Pro2036=) c.5994C>A (p.Pro1998=) c.6063C>A (p.Pro2021=) c.5691C>A (p.Pro1897=) c.5847C>A (p.Pro1949=) c.6054C>A (p.Pro2018=) c.5355C>A (p.Pro1785=) c.6102C>A (p.Pro2034=) | |
16 | g.3728940G>A | CA394554207 | CREBBP | c.6107C>T (p.Pro2036Leu) c.5993C>T (p.Pro1998Leu) c.6062C>T (p.Pro2021Leu) c.5690C>T (p.Pro1897Leu) c.5846C>T (p.Pro1949Leu) c.6053C>T (p.Pro2018Leu) c.5354C>T (p.Pro1785Leu) c.6101C>T (p.Pro2034Leu) | dbSNP |
16 | g.3728940G>C | CA394554205 | CREBBP | c.6107C>G (p.Pro2036Arg) c.5993C>G (p.Pro1998Arg) c.6062C>G (p.Pro2021Arg) c.5690C>G (p.Pro1897Arg) c.5846C>G (p.Pro1949Arg) c.6053C>G (p.Pro2018Arg) c.5354C>G (p.Pro1785Arg) c.6101C>G (p.Pro2034Arg) | |
16 | g.3728940G>T | CA394554206 | CREBBP | c.6107C>A (p.Pro2036His) c.5993C>A (p.Pro1998His) c.6062C>A (p.Pro2021His) c.5690C>A (p.Pro1897His) c.5846C>A (p.Pro1949His) c.6053C>A (p.Pro2018His) c.5354C>A (p.Pro1785His) c.6101C>A (p.Pro2034His) | |
16 | g.3728941G>A | CA394554208 | CREBBP | c.6106C>T (p.Pro2036Ser) c.5992C>T (p.Pro1998Ser) c.6061C>T (p.Pro2021Ser) c.5689C>T (p.Pro1897Ser) c.5845C>T (p.Pro1949Ser) c.6052C>T (p.Pro2018Ser) c.5353C>T (p.Pro1785Ser) c.6100C>T (p.Pro2034Ser) | dbSNP gnomAD v4 |
16 | g.3728941G>C | CA394554209 | CREBBP | c.6106C>G (p.Pro2036Ala) c.5992C>G (p.Pro1998Ala) c.6061C>G (p.Pro2021Ala) c.5689C>G (p.Pro1897Ala) c.5845C>G (p.Pro1949Ala) c.6052C>G (p.Pro2018Ala) c.5353C>G (p.Pro1785Ala) c.6100C>G (p.Pro2034Ala) | dbSNP COSMIC |
16 | g.3728941G= | CA2202916128 | CREBBP | c.6106C= (p.Pro2036=) c.5992C= (p.Pro1998=) c.6061C= (p.Pro2021=) c.5689C= (p.Pro1897=) c.5845C= (p.Pro1949=) c.6052C= (p.Pro2018=) c.5353C= (p.Pro1785=) c.6100C= (p.Pro2034=) | |
16 | g.3728941G>T | CA394554210 | CREBBP | c.6106C>A (p.Pro2036Thr) c.5992C>A (p.Pro1998Thr) c.6061C>A (p.Pro2021Thr) c.5689C>A (p.Pro1897Thr) c.5845C>A (p.Pro1949Thr) c.6052C>A (p.Pro2018Thr) c.5353C>A (p.Pro1785Thr) c.6100C>A (p.Pro2034Thr) | |
16 | g.3728942del | CA2839593153 | CREBBP | c.6105del (p.Leu2035PhefsTer5) c.5991del (p.Leu1997PhefsTer5) c.6060del (p.Leu2020PhefsTer5) c.5688del (p.Leu1896PhefsTer5) c.5844del (p.Leu1948PhefsTer5) c.6051del (p.Leu2017PhefsTer5) c.5352del (p.Leu1784PhefsTer5) c.6099del (p.Leu2033PhefsTer5) | |
16 | g.3728942C>A | CA394554211 | CREBBP | c.6105G>T (p.Leu2035Phe) c.5991G>T (p.Leu1997Phe) c.6060G>T (p.Leu2020Phe) c.5688G>T (p.Leu1896Phe) c.5844G>T (p.Leu1948Phe) c.6051G>T (p.Leu2017Phe) c.5352G>T (p.Leu1784Phe) c.6099G>T (p.Leu2033Phe) | dbSNP gnomAD v4 |
16 | g.3728942C>G | CA394554212 | CREBBP | c.6105G>C (p.Leu2035Phe) c.5991G>C (p.Leu1997Phe) c.6060G>C (p.Leu2020Phe) c.5688G>C (p.Leu1896Phe) c.5844G>C (p.Leu1948Phe) c.6051G>C (p.Leu2017Phe) c.5352G>C (p.Leu1784Phe) c.6099G>C (p.Leu2033Phe) | dbSNP |
16 | g.3728942C>T | CA493393842 | CREBBP | c.6105G>A (p.Leu2035=) c.5991G>A (p.Leu1997=) c.6060G>A (p.Leu2020=) c.5688G>A (p.Leu1896=) c.5844G>A (p.Leu1948=) c.6051G>A (p.Leu2017=) c.5352G>A (p.Leu1784=) c.6099G>A (p.Leu2033=) | dbSNP gnomAD v4 |
16 | g.3728942_3728943delinsCA | CA2202916129 | CREBBP | c.6104_6105delinsTG (p.Leu2035=) c.5990_5991delinsTG (p.Leu1997=) c.6059_6060delinsTG (p.Leu2020=) c.5687_5688delinsTG (p.Leu1896=) c.5843_5844delinsTG (p.Leu1948=) c.6050_6051delinsTG (p.Leu2017=) c.5351_5352delinsTG (p.Leu1784=) c.6098_6099delinsTG (p.Leu2033=) | |
16 | g.3728943A>C | CA394554213 | CREBBP | c.6104T>G (p.Leu2035Trp) c.5990T>G (p.Leu1997Trp) c.6059T>G (p.Leu2020Trp) c.5687T>G (p.Leu1896Trp) c.5843T>G (p.Leu1948Trp) c.6050T>G (p.Leu2017Trp) c.5351T>G (p.Leu1784Trp) c.6098T>G (p.Leu2033Trp) | dbSNP |
16 | g.3728943A>G | CA394554215 | CREBBP | c.6104T>C (p.Leu2035Ser) c.5990T>C (p.Leu1997Ser) c.6059T>C (p.Leu2020Ser) c.5687T>C (p.Leu1896Ser) c.5843T>C (p.Leu1948Ser) c.6050T>C (p.Leu2017Ser) c.5351T>C (p.Leu1784Ser) c.6098T>C (p.Leu2033Ser) | dbSNP |
16 | g.3728943A>T | CA394554214 | CREBBP | c.6104T>A (p.Leu2035Ter) c.5990T>A (p.Leu1997Ter) c.6059T>A (p.Leu2020Ter) c.5687T>A (p.Leu1896Ter) c.5843T>A (p.Leu1948Ter) c.6050T>A (p.Leu2017Ter) c.5351T>A (p.Leu1784Ter) c.6098T>A (p.Leu2033Ter) | dbSNP |
16 | g.3728944del | CA1139664467 | CREBBP | c.6104del (p.Leu2035CysfsTer5) c.5990del (p.Leu1997CysfsTer5) c.6059del (p.Leu2020CysfsTer5) c.5687del (p.Leu1896CysfsTer5) c.5843del (p.Leu1948CysfsTer5) c.6050del (p.Leu2017CysfsTer5) c.5351del (p.Leu1784CysfsTer5) c.6098del (p.Leu2033CysfsTer5) | ClinVar dbSNP |
16 | g.3728944A>C | CA394554216 | CREBBP | c.6103T>G (p.Leu2035Val) c.5989T>G (p.Leu1997Val) c.6058T>G (p.Leu2020Val) c.5686T>G (p.Leu1896Val) c.5842T>G (p.Leu1948Val) c.6049T>G (p.Leu2017Val) c.5350T>G (p.Leu1784Val) c.6097T>G (p.Leu2033Val) | dbSNP |
16 | g.3728944A>G | CA493393843 | CREBBP | c.6103T>C (p.Leu2035=) c.5989T>C (p.Leu1997=) c.6058T>C (p.Leu2020=) c.5686T>C (p.Leu1896=) c.5842T>C (p.Leu1948=) c.6049T>C (p.Leu2017=) c.5350T>C (p.Leu1784=) c.6097T>C (p.Leu2033=) | dbSNP |
16 | g.3728944A>T | CA394554217 | CREBBP | c.6103T>A (p.Leu2035Met) c.5989T>A (p.Leu1997Met) c.6058T>A (p.Leu2020Met) c.5686T>A (p.Leu1896Met) c.5842T>A (p.Leu1948Met) c.6049T>A (p.Leu2017Met) c.5350T>A (p.Leu1784Met) c.6097T>A (p.Leu2033Met) | dbSNP |
16 | g.3728945G>A | CA493393844 | CREBBP | c.6102C>T (p.Gly2034=) c.5988C>T (p.Gly1996=) c.6057C>T (p.Gly2019=) c.5685C>T (p.Gly1895=) c.5841C>T (p.Gly1947=) c.6048C>T (p.Gly2016=) c.5349C>T (p.Gly1783=) c.6096C>T (p.Gly2032=) | ClinVar dbSNP |
16 | g.3728945G>C | CA493393845 | CREBBP | c.6102C>G (p.Gly2034=) c.5988C>G (p.Gly1996=) c.6057C>G (p.Gly2019=) c.5685C>G (p.Gly1895=) c.5841C>G (p.Gly1947=) c.6048C>G (p.Gly2016=) c.5349C>G (p.Gly1783=) c.6096C>G (p.Gly2032=) | gnomAD v4 |
16 | g.3728945G>T | CA493393846 | CREBBP | c.6102C>A (p.Gly2034=) c.5988C>A (p.Gly1996=) c.6057C>A (p.Gly2019=) c.5685C>A (p.Gly1895=) c.5841C>A (p.Gly1947=) c.6048C>A (p.Gly2016=) c.5349C>A (p.Gly1783=) c.6096C>A (p.Gly2032=) | gnomAD v4 |
16 | g.3728946C>A | CA394554218 | CREBBP | c.6101G>T (p.Gly2034Val) c.5987G>T (p.Gly1996Val) c.6056G>T (p.Gly2019Val) c.5684G>T (p.Gly1895Val) c.5840G>T (p.Gly1947Val) c.6047G>T (p.Gly2016Val) c.5348G>T (p.Gly1783Val) c.6095G>T (p.Gly2032Val) | dbSNP |
16 | g.3728946C>G | CA394554220 | CREBBP | c.6101G>C (p.Gly2034Ala) c.5987G>C (p.Gly1996Ala) c.6056G>C (p.Gly2019Ala) c.5684G>C (p.Gly1895Ala) c.5840G>C (p.Gly1947Ala) c.6047G>C (p.Gly2016Ala) c.5348G>C (p.Gly1783Ala) c.6095G>C (p.Gly2032Ala) | dbSNP gnomAD v4 |
16 | g.3728946C>T | CA394554221 | CREBBP | c.6101G>A (p.Gly2034Asp) c.5987G>A (p.Gly1996Asp) c.6056G>A (p.Gly2019Asp) c.5684G>A (p.Gly1895Asp) c.5840G>A (p.Gly1947Asp) c.6047G>A (p.Gly2016Asp) c.5348G>A (p.Gly1783Asp) c.6095G>A (p.Gly2032Asp) | dbSNP gnomAD v4 |
16 | g.3728947C>A | CA394554224 | CREBBP | c.6100G>T (p.Gly2034Cys) c.5986G>T (p.Gly1996Cys) c.6055G>T (p.Gly2019Cys) c.5683G>T (p.Gly1895Cys) c.5839G>T (p.Gly1947Cys) c.6046G>T (p.Gly2016Cys) c.5347G>T (p.Gly1783Cys) c.6094G>T (p.Gly2032Cys) | |
16 | g.3728947C>G | CA394554225 | CREBBP | c.6100G>C (p.Gly2034Arg) c.5986G>C (p.Gly1996Arg) c.6055G>C (p.Gly2019Arg) c.5683G>C (p.Gly1895Arg) c.5839G>C (p.Gly1947Arg) c.6046G>C (p.Gly2016Arg) c.5347G>C (p.Gly1783Arg) c.6094G>C (p.Gly2032Arg) | dbSNP |
16 | g.3728947C>T | CA394554227 | CREBBP | c.6100G>A (p.Gly2034Ser) c.5986G>A (p.Gly1996Ser) c.6055G>A (p.Gly2019Ser) c.5683G>A (p.Gly1895Ser) c.5839G>A (p.Gly1947Ser) c.6046G>A (p.Gly2016Ser) c.5347G>A (p.Gly1783Ser) c.6094G>A (p.Gly2032Ser) | dbSNP |
16 | g.3728948T>A | CA493393848 | CREBBP | c.6099A>T (p.Pro2033=) c.5985A>T (p.Pro1995=) c.6054A>T (p.Pro2018=) c.5682A>T (p.Pro1894=) c.5838A>T (p.Pro1946=) c.6045A>T (p.Pro2015=) c.5346A>T (p.Pro1782=) c.6093A>T (p.Pro2031=) | |
16 | g.3728948T>C | CA493393849 | CREBBP | c.6099A>G (p.Pro2033=) c.5985A>G (p.Pro1995=) c.6054A>G (p.Pro2018=) c.5682A>G (p.Pro1894=) c.5838A>G (p.Pro1946=) c.6045A>G (p.Pro2015=) c.5346A>G (p.Pro1782=) c.6093A>G (p.Pro2031=) | |
16 | g.3728948T>G | CA493393851 | CREBBP | c.6099A>C (p.Pro2033=) c.5985A>C (p.Pro1995=) c.6054A>C (p.Pro2018=) c.5682A>C (p.Pro1894=) c.5838A>C (p.Pro1946=) c.6045A>C (p.Pro2015=) c.5346A>C (p.Pro1782=) c.6093A>C (p.Pro2031=) | |
16 | g.3728949G>A | CA394554230 | CREBBP | c.6098C>T (p.Pro2033Leu) c.5984C>T (p.Pro1995Leu) c.6053C>T (p.Pro2018Leu) c.5681C>T (p.Pro1894Leu) c.5837C>T (p.Pro1946Leu) c.6044C>T (p.Pro2015Leu) c.5345C>T (p.Pro1782Leu) c.6092C>T (p.Pro2031Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728949G>C | CA394554231 | CREBBP | c.6098C>G (p.Pro2033Arg) c.5984C>G (p.Pro1995Arg) c.6053C>G (p.Pro2018Arg) c.5681C>G (p.Pro1894Arg) c.5837C>G (p.Pro1946Arg) c.6044C>G (p.Pro2015Arg) c.5345C>G (p.Pro1782Arg) c.6092C>G (p.Pro2031Arg) | gnomAD v4 |
16 | g.3728949G= | CA2202916130 | CREBBP | c.6098C= (p.Pro2033=) c.5984C= (p.Pro1995=) c.6053C= (p.Pro2018=) c.5681C= (p.Pro1894=) c.5837C= (p.Pro1946=) c.6044C= (p.Pro2015=) c.5345C= (p.Pro1782=) c.6092C= (p.Pro2031=) | |
16 | g.3728949G>T | CA394554233 | CREBBP | c.6098C>A (p.Pro2033Gln) c.5984C>A (p.Pro1995Gln) c.6053C>A (p.Pro2018Gln) c.5681C>A (p.Pro1894Gln) c.5837C>A (p.Pro1946Gln) c.6044C>A (p.Pro2015Gln) c.5345C>A (p.Pro1782Gln) c.6092C>A (p.Pro2031Gln) | gnomAD v4 |
16 | g.3728950G>A | CA394554235 | CREBBP | c.6097C>T (p.Pro2033Ser) c.5983C>T (p.Pro1995Ser) c.6052C>T (p.Pro2018Ser) c.5680C>T (p.Pro1894Ser) c.5836C>T (p.Pro1946Ser) c.6043C>T (p.Pro2015Ser) c.5344C>T (p.Pro1782Ser) c.6091C>T (p.Pro2031Ser) | dbSNP |
16 | g.3728950G>C | CA394554238 | CREBBP | c.6097C>G (p.Pro2033Ala) c.5983C>G (p.Pro1995Ala) c.6052C>G (p.Pro2018Ala) c.5680C>G (p.Pro1894Ala) c.5836C>G (p.Pro1946Ala) c.6043C>G (p.Pro2015Ala) c.5344C>G (p.Pro1782Ala) c.6091C>G (p.Pro2031Ala) | dbSNP |
16 | g.3728950G>T | CA394554237 | CREBBP | c.6097C>A (p.Pro2033Thr) c.5983C>A (p.Pro1995Thr) c.6052C>A (p.Pro2018Thr) c.5680C>A (p.Pro1894Thr) c.5836C>A (p.Pro1946Thr) c.6043C>A (p.Pro2015Thr) c.5344C>A (p.Pro1782Thr) c.6091C>A (p.Pro2031Thr) | dbSNP |
16 | g.3728951C>A | CA394554240 | CREBBP | c.6096G>T (p.Met2032Ile) c.5982G>T (p.Met1994Ile) c.6051G>T (p.Met2017Ile) c.5679G>T (p.Met1893Ile) c.5835G>T (p.Met1945Ile) c.6042G>T (p.Met2014Ile) c.5343G>T (p.Met1781Ile) c.6090G>T (p.Met2030Ile) | dbSNP gnomAD v4 |
16 | g.3728951C>G | CA394554244 | CREBBP | c.6096G>C (p.Met2032Ile) c.5982G>C (p.Met1994Ile) c.6051G>C (p.Met2017Ile) c.5679G>C (p.Met1893Ile) c.5835G>C (p.Met1945Ile) c.6042G>C (p.Met2014Ile) c.5343G>C (p.Met1781Ile) c.6090G>C (p.Met2030Ile) | dbSNP |
16 | g.3728951C>T | CA394554242 | CREBBP | c.6096G>A (p.Met2032Ile) c.5982G>A (p.Met1994Ile) c.6051G>A (p.Met2017Ile) c.5679G>A (p.Met1893Ile) c.5835G>A (p.Met1945Ile) c.6042G>A (p.Met2014Ile) c.5343G>A (p.Met1781Ile) c.6090G>A (p.Met2030Ile) | dbSNP |
16 | g.3728952A>C | CA394554245 | CREBBP | c.6095T>G (p.Met2032Arg) c.5981T>G (p.Met1994Arg) c.6050T>G (p.Met2017Arg) c.5678T>G (p.Met1893Arg) c.5834T>G (p.Met1945Arg) c.6041T>G (p.Met2014Arg) c.5342T>G (p.Met1781Arg) c.6089T>G (p.Met2030Arg) | dbSNP |
16 | g.3728952A>G | CA394554247 | CREBBP | c.6095T>C (p.Met2032Thr) c.5981T>C (p.Met1994Thr) c.6050T>C (p.Met2017Thr) c.5678T>C (p.Met1893Thr) c.5834T>C (p.Met1945Thr) c.6041T>C (p.Met2014Thr) c.5342T>C (p.Met1781Thr) c.6089T>C (p.Met2030Thr) | dbSNP |
16 | g.3728952A>T | CA394554249 | CREBBP | c.6095T>A (p.Met2032Lys) c.5981T>A (p.Met1994Lys) c.6050T>A (p.Met2017Lys) c.5678T>A (p.Met1893Lys) c.5834T>A (p.Met1945Lys) c.6041T>A (p.Met2014Lys) c.5342T>A (p.Met1781Lys) c.6089T>A (p.Met2030Lys) | dbSNP |
16 | g.3728953T>A | CA394554251 | CREBBP | c.6094A>T (p.Met2032Leu) c.5980A>T (p.Met1994Leu) c.6049A>T (p.Met2017Leu) c.5677A>T (p.Met1893Leu) c.5833A>T (p.Met1945Leu) c.6040A>T (p.Met2014Leu) c.5341A>T (p.Met1781Leu) c.6088A>T (p.Met2030Leu) | |
16 | g.3728953T>C | CA394554253 | CREBBP | c.6094A>G (p.Met2032Val) c.5980A>G (p.Met1994Val) c.6049A>G (p.Met2017Val) c.5677A>G (p.Met1893Val) c.5833A>G (p.Met1945Val) c.6040A>G (p.Met2014Val) c.5341A>G (p.Met1781Val) c.6088A>G (p.Met2030Val) | |
16 | g.3728953T>G | CA394554255 | CREBBP | c.6094A>C (p.Met2032Leu) c.5980A>C (p.Met1994Leu) c.6049A>C (p.Met2017Leu) c.5677A>C (p.Met1893Leu) c.5833A>C (p.Met1945Leu) c.6040A>C (p.Met2014Leu) c.5341A>C (p.Met1781Leu) c.6088A>C (p.Met2030Leu) | |
16 | g.3728954G>A | CA493393859 | CREBBP | c.6093C>T (p.Pro2031=) c.5979C>T (p.Pro1993=) c.6048C>T (p.Pro2016=) c.5676C>T (p.Pro1892=) c.5832C>T (p.Pro1944=) c.6039C>T (p.Pro2013=) c.5340C>T (p.Pro1780=) c.6087C>T (p.Pro2029=) | dbSNP |
16 | g.3728954G>C | CA493393858 | CREBBP | c.6093C>G (p.Pro2031=) c.5979C>G (p.Pro1993=) c.6048C>G (p.Pro2016=) c.5676C>G (p.Pro1892=) c.5832C>G (p.Pro1944=) c.6039C>G (p.Pro2013=) c.5340C>G (p.Pro1780=) c.6087C>G (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728954G>T | CA493393856 | CREBBP | c.6093C>A (p.Pro2031=) c.5979C>A (p.Pro1993=) c.6048C>A (p.Pro2016=) c.5676C>A (p.Pro1892=) c.5832C>A (p.Pro1944=) c.6039C>A (p.Pro2013=) c.5340C>A (p.Pro1780=) c.6087C>A (p.Pro2029=) | dbSNP gnomAD v4 |
16 | g.3728956dup | CA2840860806 | CREBBP | c.6093dup (p.Met2032HisfsTer?) c.5979dup (p.Met1994HisfsTer?) c.6048dup (p.Met2017HisfsTer?) c.5676dup (p.Met1893HisfsTer?) c.5832dup (p.Met1945HisfsTer?) c.6039dup (p.Met2014HisfsTer?) c.5340dup (p.Met1781HisfsTer?) c.6087dup (p.Met2030HisfsTer?) | |
16 | g.3728955G>A | CA394554257 | CREBBP | c.6092C>T (p.Pro2031Leu) c.5978C>T (p.Pro1993Leu) c.6047C>T (p.Pro2016Leu) c.5675C>T (p.Pro1892Leu) c.5831C>T (p.Pro1944Leu) c.6038C>T (p.Pro2013Leu) c.5339C>T (p.Pro1780Leu) c.6086C>T (p.Pro2029Leu) | |
16 | g.3728955G>C | CA394554259 | CREBBP | c.6092C>G (p.Pro2031Arg) c.5978C>G (p.Pro1993Arg) c.6047C>G (p.Pro2016Arg) c.5675C>G (p.Pro1892Arg) c.5831C>G (p.Pro1944Arg) c.6038C>G (p.Pro2013Arg) c.5339C>G (p.Pro1780Arg) c.6086C>G (p.Pro2029Arg) | |
16 | g.3728955G= | CA2202916131 | CREBBP | c.6092C= (p.Pro2031=) c.5978C= (p.Pro1993=) c.6047C= (p.Pro2016=) c.5675C= (p.Pro1892=) c.5831C= (p.Pro1944=) c.6038C= (p.Pro2013=) c.5339C= (p.Pro1780=) c.6086C= (p.Pro2029=) | |
16 | g.3728955G>T | CA394554261 | CREBBP | c.6092C>A (p.Pro2031His) c.5978C>A (p.Pro1993His) c.6047C>A (p.Pro2016His) c.5675C>A (p.Pro1892His) c.5831C>A (p.Pro1944His) c.6038C>A (p.Pro2013His) c.5339C>A (p.Pro1780His) c.6086C>A (p.Pro2029His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728956G>A | CA394554267 | CREBBP | c.6091C>T (p.Pro2031Ser) c.5977C>T (p.Pro1993Ser) c.6046C>T (p.Pro2016Ser) c.5674C>T (p.Pro1892Ser) c.5830C>T (p.Pro1944Ser) c.6037C>T (p.Pro2013Ser) c.5338C>T (p.Pro1780Ser) c.6085C>T (p.Pro2029Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728956G>C | CA394554265 | CREBBP | c.6091C>G (p.Pro2031Ala) c.5977C>G (p.Pro1993Ala) c.6046C>G (p.Pro2016Ala) c.5674C>G (p.Pro1892Ala) c.5830C>G (p.Pro1944Ala) c.6037C>G (p.Pro2013Ala) c.5338C>G (p.Pro1780Ala) c.6085C>G (p.Pro2029Ala) | dbSNP |
16 | g.3728956G= | CA2202916132 | CREBBP | c.6091C= (p.Pro2031=) c.5977C= (p.Pro1993=) c.6046C= (p.Pro2016=) c.5674C= (p.Pro1892=) c.5830C= (p.Pro1944=) c.6037C= (p.Pro2013=) c.5338C= (p.Pro1780=) c.6085C= (p.Pro2029=) | |
16 | g.3728956G>T | CA394554263 | CREBBP | c.6091C>A (p.Pro2031Thr) c.5977C>A (p.Pro1993Thr) c.6046C>A (p.Pro2016Thr) c.5674C>A (p.Pro1892Thr) c.5830C>A (p.Pro1944Thr) c.6037C>A (p.Pro2013Thr) c.5338C>A (p.Pro1780Thr) c.6085C>A (p.Pro2029Thr) | dbSNP gnomAD v4 |
16 | g.3728957C>A | CA394554270 | CREBBP | c.6090G>T (p.Gln2030His) c.5976G>T (p.Gln1992His) c.6045G>T (p.Gln2015His) c.5673G>T (p.Gln1891His) c.5829G>T (p.Gln1943His) c.6036G>T (p.Gln2012His) c.5337G>T (p.Gln1779His) c.6084G>T (p.Gln2028His) | gnomAD v4 |
16 | g.3728957C= | CA2202916133 | CREBBP | c.6090G= (p.Gln2030=) c.5976G= (p.Gln1992=) c.6045G= (p.Gln2015=) c.5673G= (p.Gln1891=) c.5829G= (p.Gln1943=) c.6036G= (p.Gln2012=) c.5337G= (p.Gln1779=) c.6084G= (p.Gln2028=) | |
16 | g.3728957C>G | CA394554271 | CREBBP | c.6090G>C (p.Gln2030His) c.5976G>C (p.Gln1992His) c.6045G>C (p.Gln2015His) c.5673G>C (p.Gln1891His) c.5829G>C (p.Gln1943His) c.6036G>C (p.Gln2012His) c.5337G>C (p.Gln1779His) c.6084G>C (p.Gln2028His) | dbSNP |
16 | g.3728957C>T | CA171802 | CREBBP | c.6090G>A (p.Gln2030=) c.5976G>A (p.Gln1992=) c.6045G>A (p.Gln2015=) c.5673G>A (p.Gln1891=) c.5829G>A (p.Gln1943=) c.6036G>A (p.Gln2012=) c.5337G>A (p.Gln1779=) c.6084G>A (p.Gln2028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728958T>A | CA394554274 | CREBBP | c.6089A>T (p.Gln2030Leu) c.5975A>T (p.Gln1992Leu) c.6044A>T (p.Gln2015Leu) c.5672A>T (p.Gln1891Leu) c.5828A>T (p.Gln1943Leu) c.6035A>T (p.Gln2012Leu) c.5336A>T (p.Gln1779Leu) c.6083A>T (p.Gln2028Leu) | dbSNP |
16 | g.3728958T>C | CA394554276 | CREBBP | c.6089A>G (p.Gln2030Arg) c.5975A>G (p.Gln1992Arg) c.6044A>G (p.Gln2015Arg) c.5672A>G (p.Gln1891Arg) c.5828A>G (p.Gln1943Arg) c.6035A>G (p.Gln2012Arg) c.5336A>G (p.Gln1779Arg) c.6083A>G (p.Gln2028Arg) | dbSNP |
16 | g.3728958T>G | CA276971782 | CREBBP | c.6089A>C (p.Gln2030Pro) c.5975A>C (p.Gln1992Pro) c.6044A>C (p.Gln2015Pro) c.5672A>C (p.Gln1891Pro) c.5828A>C (p.Gln1943Pro) c.6035A>C (p.Gln2012Pro) c.5336A>C (p.Gln1779Pro) c.6083A>C (p.Gln2028Pro) | dbSNP |
16 | g.3728958T= | CA2202916134 | CREBBP | c.6089A= (p.Gln2030=) c.5975A= (p.Gln1992=) c.6044A= (p.Gln2015=) c.5672A= (p.Gln1891=) c.5828A= (p.Gln1943=) c.6035A= (p.Gln2012=) c.5336A= (p.Gln1779=) c.6083A= (p.Gln2028=) | |
16 | g.3728959G>A | CA271436 | CREBBP | c.6088C>T (p.Gln2030Ter) c.5974C>T (p.Gln1992Ter) c.6043C>T (p.Gln2015Ter) c.5671C>T (p.Gln1891Ter) c.5827C>T (p.Gln1943Ter) c.6034C>T (p.Gln2012Ter) c.5335C>T (p.Gln1779Ter) c.6082C>T (p.Gln2028Ter) | ClinVar dbSNP gnomAD v4 |
16 | g.3728959G>C | CA394554280 | CREBBP | c.6088C>G (p.Gln2030Glu) c.5974C>G (p.Gln1992Glu) c.6043C>G (p.Gln2015Glu) c.5671C>G (p.Gln1891Glu) c.5827C>G (p.Gln1943Glu) c.6034C>G (p.Gln2012Glu) c.5335C>G (p.Gln1779Glu) c.6082C>G (p.Gln2028Glu) | |
16 | g.3728959G= | CA2202916135 | CREBBP | c.6088C= (p.Gln2030=) c.5974C= (p.Gln1992=) c.6043C= (p.Gln2015=) c.5671C= (p.Gln1891=) c.5827C= (p.Gln1943=) c.6034C= (p.Gln2012=) c.5335C= (p.Gln1779=) c.6082C= (p.Gln2028=) | |
16 | g.3728959G>T | CA394554282 | CREBBP | c.6088C>A (p.Gln2030Lys) c.5974C>A (p.Gln1992Lys) c.6043C>A (p.Gln2015Lys) c.5671C>A (p.Gln1891Lys) c.5827C>A (p.Gln1943Lys) c.6034C>A (p.Gln2012Lys) c.5335C>A (p.Gln1779Lys) c.6082C>A (p.Gln2028Lys) | gnomAD v4 |
16 | g.3728960C>A | CA394554284 | CREBBP | c.6087G>T (p.Gln2029His) c.5973G>T (p.Gln1991His) c.6042G>T (p.Gln2014His) c.5670G>T (p.Gln1890His) c.5826G>T (p.Gln1942His) c.6033G>T (p.Gln2011His) c.5334G>T (p.Gln1778His) c.6081G>T (p.Gln2027His) | COSMIC |
16 | g.3728960C= | CA2202916136 | CREBBP | c.6087G= (p.Gln2029=) c.5973G= (p.Gln1991=) c.6042G= (p.Gln2014=) c.5670G= (p.Gln1890=) c.5826G= (p.Gln1942=) c.6033G= (p.Gln2011=) c.5334G= (p.Gln1778=) c.6081G= (p.Gln2027=) | |
16 | g.3728960C>G | CA394554286 | CREBBP | c.6087G>C (p.Gln2029His) c.5973G>C (p.Gln1991His) c.6042G>C (p.Gln2014His) c.5670G>C (p.Gln1890His) c.5826G>C (p.Gln1942His) c.6033G>C (p.Gln2011His) c.5334G>C (p.Gln1778His) c.6081G>C (p.Gln2027His) | dbSNP |
16 | g.3728960C>T | CA493393864 | CREBBP | c.6087G>A (p.Gln2029=) c.5973G>A (p.Gln1991=) c.6042G>A (p.Gln2014=) c.5670G>A (p.Gln1890=) c.5826G>A (p.Gln1942=) c.6033G>A (p.Gln2011=) c.5334G>A (p.Gln1778=) c.6081G>A (p.Gln2027=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728961T>A | CA394554289 | CREBBP | c.6086A>T (p.Gln2029Leu) c.5972A>T (p.Gln1991Leu) c.6041A>T (p.Gln2014Leu) c.5669A>T (p.Gln1890Leu) c.5825A>T (p.Gln1942Leu) c.6032A>T (p.Gln2011Leu) c.5333A>T (p.Gln1778Leu) c.6080A>T (p.Gln2027Leu) | dbSNP |
16 | g.3728961T>C | CA394554291 | CREBBP | c.6086A>G (p.Gln2029Arg) c.5972A>G (p.Gln1991Arg) c.6041A>G (p.Gln2014Arg) c.5669A>G (p.Gln1890Arg) c.5825A>G (p.Gln1942Arg) c.6032A>G (p.Gln2011Arg) c.5333A>G (p.Gln1778Arg) c.6080A>G (p.Gln2027Arg) | |
16 | g.3728961T>G | CA394554287 | CREBBP | c.6086A>C (p.Gln2029Pro) c.5972A>C (p.Gln1991Pro) c.6041A>C (p.Gln2014Pro) c.5669A>C (p.Gln1890Pro) c.5825A>C (p.Gln1942Pro) c.6032A>C (p.Gln2011Pro) c.5333A>C (p.Gln1778Pro) c.6080A>C (p.Gln2027Pro) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728961T= | CA2202916137 | CREBBP | c.6086A= (p.Gln2029=) c.5972A= (p.Gln1991=) c.6041A= (p.Gln2014=) c.5669A= (p.Gln1890=) c.5825A= (p.Gln1942=) c.6032A= (p.Gln2011=) c.5333A= (p.Gln1778=) c.6080A= (p.Gln2027=) | |
16 | g.3728968_3729007del | CA2631403143 | CREBBP | c.6047_6086del (p.Met2016SerfsTer11) c.5933_5972del (p.Met1978SerfsTer11) c.6002_6041del (p.Met2001SerfsTer11) c.5630_5669del (p.Met1877SerfsTer11) c.5786_5825del (p.Met1929SerfsTer11) c.5993_6032del (p.Met1998SerfsTer11) c.5294_5333del (p.Met1765SerfsTer11) c.6041_6080del (p.Met2014SerfsTer11) | gnomAD v4 |
16 | g.3728962G>A | CA394554293 | CREBBP | c.6085C>T (p.Gln2029Ter) c.5971C>T (p.Gln1991Ter) c.6040C>T (p.Gln2014Ter) c.5668C>T (p.Gln1890Ter) c.5824C>T (p.Gln1942Ter) c.6031C>T (p.Gln2011Ter) c.5332C>T (p.Gln1778Ter) c.6079C>T (p.Gln2027Ter) | dbSNP |
16 | g.3728962G>C | CA394554295 | CREBBP | c.6085C>G (p.Gln2029Glu) c.5971C>G (p.Gln1991Glu) c.6040C>G (p.Gln2014Glu) c.5668C>G (p.Gln1890Glu) c.5824C>G (p.Gln1942Glu) c.6031C>G (p.Gln2011Glu) c.5332C>G (p.Gln1778Glu) c.6079C>G (p.Gln2027Glu) | |
16 | g.3728962G>T | CA394554297 | CREBBP | c.6085C>A (p.Gln2029Lys) c.5971C>A (p.Gln1991Lys) c.6040C>A (p.Gln2014Lys) c.5668C>A (p.Gln1890Lys) c.5824C>A (p.Gln1942Lys) c.6031C>A (p.Gln2011Lys) c.5332C>A (p.Gln1778Lys) c.6079C>A (p.Gln2027Lys) | gnomAD v4 |
16 | g.3728963C>A | CA394554299 | CREBBP | c.6084G>T (p.Gln2028His) c.5970G>T (p.Gln1990His) c.6039G>T (p.Gln2013His) c.5667G>T (p.Gln1889His) c.5823G>T (p.Gln1941His) c.6030G>T (p.Gln2010His) c.5331G>T (p.Gln1777His) c.6078G>T (p.Gln2026His) | |
16 | g.3728963C= | CA2202916138 | CREBBP | c.6084G= (p.Gln2028=) c.5970G= (p.Gln1990=) c.6039G= (p.Gln2013=) c.5667G= (p.Gln1889=) c.5823G= (p.Gln1941=) c.6030G= (p.Gln2010=) c.5331G= (p.Gln1777=) c.6078G= (p.Gln2026=) | |
16 | g.3728963C>G | CA394554301 | CREBBP | c.6084G>C (p.Gln2028His) c.5970G>C (p.Gln1990His) c.6039G>C (p.Gln2013His) c.5667G>C (p.Gln1889His) c.5823G>C (p.Gln1941His) c.6030G>C (p.Gln2010His) c.5331G>C (p.Gln1777His) c.6078G>C (p.Gln2026His) | |
16 | g.3728963C>T | CA7869183 | CREBBP | c.6084G>A (p.Gln2028=) c.5970G>A (p.Gln1990=) c.6039G>A (p.Gln2013=) c.5667G>A (p.Gln1889=) c.5823G>A (p.Gln1941=) c.6030G>A (p.Gln2010=) c.5331G>A (p.Gln1777=) c.6078G>A (p.Gln2026=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728964T>A | CA394554304 | CREBBP | c.6083A>T (p.Gln2028Leu) c.5969A>T (p.Gln1990Leu) c.6038A>T (p.Gln2013Leu) c.5666A>T (p.Gln1889Leu) c.5822A>T (p.Gln1941Leu) c.6029A>T (p.Gln2010Leu) c.5330A>T (p.Gln1777Leu) c.6077A>T (p.Gln2026Leu) | |
16 | g.3728964T>C | CA394554306 | CREBBP | c.6083A>G (p.Gln2028Arg) c.5969A>G (p.Gln1990Arg) c.6038A>G (p.Gln2013Arg) c.5666A>G (p.Gln1889Arg) c.5822A>G (p.Gln1941Arg) c.6029A>G (p.Gln2010Arg) c.5330A>G (p.Gln1777Arg) c.6077A>G (p.Gln2026Arg) | |
16 | g.3728964T>G | CA394554308 | CREBBP | c.6083A>C (p.Gln2028Pro) c.5969A>C (p.Gln1990Pro) c.6038A>C (p.Gln2013Pro) c.5666A>C (p.Gln1889Pro) c.5822A>C (p.Gln1941Pro) c.6029A>C (p.Gln2010Pro) c.5330A>C (p.Gln1777Pro) c.6077A>C (p.Gln2026Pro) | |
16 | g.3728965G>A | CA394554309 | CREBBP | c.6082C>T (p.Gln2028Ter) c.5968C>T (p.Gln1990Ter) c.6037C>T (p.Gln2013Ter) c.5665C>T (p.Gln1889Ter) c.5821C>T (p.Gln1941Ter) c.6028C>T (p.Gln2010Ter) c.5329C>T (p.Gln1777Ter) c.6076C>T (p.Gln2026Ter) | gnomAD v4 |
16 | g.3728965G>C | CA394554311 | CREBBP | c.6082C>G (p.Gln2028Glu) c.5968C>G (p.Gln1990Glu) c.6037C>G (p.Gln2013Glu) c.5665C>G (p.Gln1889Glu) c.5821C>G (p.Gln1941Glu) c.6028C>G (p.Gln2010Glu) c.5329C>G (p.Gln1777Glu) c.6076C>G (p.Gln2026Glu) | |
16 | g.3728965G>T | CA394554313 | CREBBP | c.6082C>A (p.Gln2028Lys) c.5968C>A (p.Gln1990Lys) c.6037C>A (p.Gln2013Lys) c.5665C>A (p.Gln1889Lys) c.5821C>A (p.Gln1941Lys) c.6028C>A (p.Gln2010Lys) c.5329C>A (p.Gln1777Lys) c.6076C>A (p.Gln2026Lys) | gnomAD v4 |
16 | g.3728966G>A | CA493393870 | CREBBP | c.6081C>T (p.Pro2027=) c.5967C>T (p.Pro1989=) c.6036C>T (p.Pro2012=) c.5664C>T (p.Pro1888=) c.5820C>T (p.Pro1940=) c.6027C>T (p.Pro2009=) c.5328C>T (p.Pro1776=) c.6075C>T (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728966G>C | CA493393871 | CREBBP | c.6081C>G (p.Pro2027=) c.5967C>G (p.Pro1989=) c.6036C>G (p.Pro2012=) c.5664C>G (p.Pro1888=) c.5820C>G (p.Pro1940=) c.6027C>G (p.Pro2009=) c.5328C>G (p.Pro1776=) c.6075C>G (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728966G>T | CA493393872 | CREBBP | c.6081C>A (p.Pro2027=) c.5967C>A (p.Pro1989=) c.6036C>A (p.Pro2012=) c.5664C>A (p.Pro1888=) c.5820C>A (p.Pro1940=) c.6027C>A (p.Pro2009=) c.5328C>A (p.Pro1776=) c.6075C>A (p.Pro2025=) | dbSNP gnomAD v4 |
16 | g.3728967G>A | CA394554317 | CREBBP | c.6080C>T (p.Pro2027Leu) c.5966C>T (p.Pro1989Leu) c.6035C>T (p.Pro2012Leu) c.5663C>T (p.Pro1888Leu) c.5819C>T (p.Pro1940Leu) c.6026C>T (p.Pro2009Leu) c.5327C>T (p.Pro1776Leu) c.6074C>T (p.Pro2025Leu) | dbSNP gnomAD v4 COSMIC |
16 | g.3728967G>C | CA394554314 | CREBBP | c.6080C>G (p.Pro2027Arg) c.5966C>G (p.Pro1989Arg) c.6035C>G (p.Pro2012Arg) c.5663C>G (p.Pro1888Arg) c.5819C>G (p.Pro1940Arg) c.6026C>G (p.Pro2009Arg) c.5327C>G (p.Pro1776Arg) c.6074C>G (p.Pro2025Arg) | |
16 | g.3728967G>T | CA394554316 | CREBBP | c.6080C>A (p.Pro2027His) c.5966C>A (p.Pro1989His) c.6035C>A (p.Pro2012His) c.5663C>A (p.Pro1888His) c.5819C>A (p.Pro1940His) c.6026C>A (p.Pro2009His) c.5327C>A (p.Pro1776His) c.6074C>A (p.Pro2025His) | dbSNP gnomAD v4 |
16 | g.3728968G>A | CA394554320 | CREBBP | c.6079C>T (p.Pro2027Ser) c.5965C>T (p.Pro1989Ser) c.6034C>T (p.Pro2012Ser) c.5662C>T (p.Pro1888Ser) c.5818C>T (p.Pro1940Ser) c.6025C>T (p.Pro2009Ser) c.5326C>T (p.Pro1776Ser) c.6073C>T (p.Pro2025Ser) | dbSNP gnomAD v4 |
16 | g.3728968G>C | CA394554321 | CREBBP | c.6079C>G (p.Pro2027Ala) c.5965C>G (p.Pro1989Ala) c.6034C>G (p.Pro2012Ala) c.5662C>G (p.Pro1888Ala) c.5818C>G (p.Pro1940Ala) c.6025C>G (p.Pro2009Ala) c.5326C>G (p.Pro1776Ala) c.6073C>G (p.Pro2025Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728968G= | CA2202916139 | CREBBP | c.6079C= (p.Pro2027=) c.5965C= (p.Pro1989=) c.6034C= (p.Pro2012=) c.5662C= (p.Pro1888=) c.5818C= (p.Pro1940=) c.6025C= (p.Pro2009=) c.5326C= (p.Pro1776=) c.6073C= (p.Pro2025=) | |
16 | g.3728968G>T | CA394554323 | CREBBP | c.6079C>A (p.Pro2027Thr) c.5965C>A (p.Pro1989Thr) c.6034C>A (p.Pro2012Thr) c.5662C>A (p.Pro1888Thr) c.5818C>A (p.Pro1940Thr) c.6025C>A (p.Pro2009Thr) c.5326C>A (p.Pro1776Thr) c.6073C>A (p.Pro2025Thr) | dbSNP gnomAD v4 |
16 | g.3728969A>C | CA493393876 | CREBBP | c.6078T>G (p.Leu2026=) c.5964T>G (p.Leu1988=) c.6033T>G (p.Leu2011=) c.5661T>G (p.Leu1887=) c.5817T>G (p.Leu1939=) c.6024T>G (p.Leu2008=) c.5325T>G (p.Leu1775=) c.6072T>G (p.Leu2024=) | dbSNP |
16 | g.3728969A>G | CA493393879 | CREBBP | c.6078T>C (p.Leu2026=) c.5964T>C (p.Leu1988=) c.6033T>C (p.Leu2011=) c.5661T>C (p.Leu1887=) c.5817T>C (p.Leu1939=) c.6024T>C (p.Leu2008=) c.5325T>C (p.Leu1775=) c.6072T>C (p.Leu2024=) | dbSNP |
16 | g.3728969A>T | CA493393880 | CREBBP | c.6078T>A (p.Leu2026=) c.5964T>A (p.Leu1988=) c.6033T>A (p.Leu2011=) c.5661T>A (p.Leu1887=) c.5817T>A (p.Leu1939=) c.6024T>A (p.Leu2008=) c.5325T>A (p.Leu1775=) c.6072T>A (p.Leu2024=) | dbSNP |
16 | g.3728970A= | CA2202916140 | CREBBP | c.6077T= (p.Leu2026=) c.5963T= (p.Leu1988=) c.6032T= (p.Leu2011=) c.5660T= (p.Leu1887=) c.5816T= (p.Leu1939=) c.6023T= (p.Leu2008=) c.5324T= (p.Leu1775=) c.6071T= (p.Leu2024=) | |
16 | g.3728970A>C | CA394554327 | CREBBP | c.6077T>G (p.Leu2026Arg) c.5963T>G (p.Leu1988Arg) c.6032T>G (p.Leu2011Arg) c.5660T>G (p.Leu1887Arg) c.5816T>G (p.Leu1939Arg) c.6023T>G (p.Leu2008Arg) c.5324T>G (p.Leu1775Arg) c.6071T>G (p.Leu2024Arg) | |
16 | g.3728970A>G | CA394554328 | CREBBP | c.6077T>C (p.Leu2026Pro) c.5963T>C (p.Leu1988Pro) c.6032T>C (p.Leu2011Pro) c.5660T>C (p.Leu1887Pro) c.5816T>C (p.Leu1939Pro) c.6023T>C (p.Leu2008Pro) c.5324T>C (p.Leu1775Pro) c.6071T>C (p.Leu2024Pro) | gnomAD v4 |
16 | g.3728970A>T | CA7869184 | CREBBP | c.6077T>A (p.Leu2026His) c.5963T>A (p.Leu1988His) c.6032T>A (p.Leu2011His) c.5660T>A (p.Leu1887His) c.5816T>A (p.Leu1939His) c.6023T>A (p.Leu2008His) c.5324T>A (p.Leu1775His) c.6071T>A (p.Leu2024His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728971G>A | CA394554331 | CREBBP | c.6076C>T (p.Leu2026Phe) c.5962C>T (p.Leu1988Phe) c.6031C>T (p.Leu2011Phe) c.5659C>T (p.Leu1887Phe) c.5815C>T (p.Leu1939Phe) c.6022C>T (p.Leu2008Phe) c.5323C>T (p.Leu1775Phe) c.6070C>T (p.Leu2024Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.3728971G>C | CA394554333 | CREBBP | c.6076C>G (p.Leu2026Val) c.5962C>G (p.Leu1988Val) c.6031C>G (p.Leu2011Val) c.5659C>G (p.Leu1887Val) c.5815C>G (p.Leu1939Val) c.6022C>G (p.Leu2008Val) c.5323C>G (p.Leu1775Val) c.6070C>G (p.Leu2024Val) | |
16 | g.3728971G>T | CA394554335 | CREBBP | c.6076C>A (p.Leu2026Ile) c.5962C>A (p.Leu1988Ile) c.6031C>A (p.Leu2011Ile) c.5659C>A (p.Leu1887Ile) c.5815C>A (p.Leu1939Ile) c.6022C>A (p.Leu2008Ile) c.5323C>A (p.Leu1775Ile) c.6070C>A (p.Leu2024Ile) | dbSNP gnomAD v4 |
16 | g.3728974del | CA2631403155 | CREBBP | c.6076del (p.Leu2026PhefsTer14) c.5962del (p.Leu1988PhefsTer14) c.6031del (p.Leu2011PhefsTer14) c.5659del (p.Leu1887PhefsTer14) c.5815del (p.Leu1939PhefsTer14) c.6022del (p.Leu2008PhefsTer14) c.5323del (p.Leu1775PhefsTer14) c.6070del (p.Leu2024PhefsTer14) | gnomAD v4 |
16 | g.3728972G>A | CA7869185 | CREBBP | c.6075C>T (p.Pro2025=) c.5961C>T (p.Pro1987=) c.6030C>T (p.Pro2010=) c.5658C>T (p.Pro1886=) c.5814C>T (p.Pro1938=) c.6021C>T (p.Pro2007=) c.5322C>T (p.Pro1774=) c.6069C>T (p.Pro2023=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.3728972G>C | CA493393886 | CREBBP | c.6075C>G (p.Pro2025=) c.5961C>G (p.Pro1987=) c.6030C>G (p.Pro2010=) c.5658C>G (p.Pro1886=) c.5814C>G (p.Pro1938=) c.6021C>G (p.Pro2007=) c.5322C>G (p.Pro1774=) c.6069C>G (p.Pro2023=) | dbSNP |
16 | g.3728972G= | CA2202916141 | CREBBP | c.6075C= (p.Pro2025=) c.5961C= (p.Pro1987=) c.6030C= (p.Pro2010=) c.5658C= (p.Pro1886=) c.5814C= (p.Pro1938=) c.6021C= (p.Pro2007=) c.5322C= (p.Pro1774=) c.6069C= (p.Pro2023=) | |
16 | g.3728972G>T | CA493393885 | CREBBP | c.6075C>A (p.Pro2025=) c.5961C>A (p.Pro1987=) c.6030C>A (p.Pro2010=) c.5658C>A (p.Pro1886=) c.5814C>A (p.Pro1938=) c.6021C>A (p.Pro2007=) c.5322C>A (p.Pro1774=) c.6069C>A (p.Pro2023=) | dbSNP gnomAD v4 |
16 | g.3728973G>A | CA276971792 | CREBBP | c.6074C>T (p.Pro2025Leu) c.5960C>T (p.Pro1987Leu) c.6029C>T (p.Pro2010Leu) c.5657C>T (p.Pro1886Leu) c.5813C>T (p.Pro1938Leu) c.6020C>T (p.Pro2007Leu) c.5321C>T (p.Pro1774Leu) c.6068C>T (p.Pro2023Leu) | dbSNP gnomAD v4 |
16 | g.3728973G>C | CA394554340 | CREBBP | c.6074C>G (p.Pro2025Arg) c.5960C>G (p.Pro1987Arg) c.6029C>G (p.Pro2010Arg) c.5657C>G (p.Pro1886Arg) c.5813C>G (p.Pro1938Arg) c.6020C>G (p.Pro2007Arg) c.5321C>G (p.Pro1774Arg) c.6068C>G (p.Pro2023Arg) | dbSNP |
16 | g.3728973G= | CA2202916142 | CREBBP | c.6074C= (p.Pro2025=) c.5960C= (p.Pro1987=) c.6029C= (p.Pro2010=) c.5657C= (p.Pro1886=) c.5813C= (p.Pro1938=) c.6020C= (p.Pro2007=) c.5321C= (p.Pro1774=) c.6068C= (p.Pro2023=) | |
16 | g.3728973G>T | CA394554342 | CREBBP | c.6074C>A (p.Pro2025His) c.5960C>A (p.Pro1987His) c.6029C>A (p.Pro2010His) c.5657C>A (p.Pro1886His) c.5813C>A (p.Pro1938His) c.6020C>A (p.Pro2007His) c.5321C>A (p.Pro1774His) c.6068C>A (p.Pro2023His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728974G>A | CA394554345 | CREBBP | c.6073C>T (p.Pro2025Ser) c.5959C>T (p.Pro1987Ser) c.6028C>T (p.Pro2010Ser) c.5656C>T (p.Pro1886Ser) c.5812C>T (p.Pro1938Ser) c.6019C>T (p.Pro2007Ser) c.5320C>T (p.Pro1774Ser) c.6067C>T (p.Pro2023Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.3728974G>C | CA394554347 | CREBBP | c.6073C>G (p.Pro2025Ala) c.5959C>G (p.Pro1987Ala) c.6028C>G (p.Pro2010Ala) c.5656C>G (p.Pro1886Ala) c.5812C>G (p.Pro1938Ala) c.6019C>G (p.Pro2007Ala) c.5320C>G (p.Pro1774Ala) c.6067C>G (p.Pro2023Ala) | dbSNP |
16 | g.3728974G>T | CA394554344 | CREBBP | c.6073C>A (p.Pro2025Thr) c.5959C>A (p.Pro1987Thr) c.6028C>A (p.Pro2010Thr) c.5656C>A (p.Pro1886Thr) c.5812C>A (p.Pro1938Thr) c.6019C>A (p.Pro2007Thr) c.5320C>A (p.Pro1774Thr) c.6067C>A (p.Pro2023Thr) | gnomAD v4 |
16 | g.3728975C>A | CA493393892 | CREBBP | c.6072G>T (p.Ala2024=) c.5958G>T (p.Ala1986=) c.6027G>T (p.Ala2009=) c.5655G>T (p.Ala1885=) c.5811G>T (p.Ala1937=) c.6018G>T (p.Ala2006=) c.5319G>T (p.Ala1773=) c.6066G>T (p.Ala2022=) | dbSNP gnomAD v4 |
16 | g.3728975C= | CA2202916143 | CREBBP | c.6072G= (p.Ala2024=) c.5958G= (p.Ala1986=) c.6027G= (p.Ala2009=) c.5655G= (p.Ala1885=) c.5811G= (p.Ala1937=) c.6018G= (p.Ala2006=) c.5319G= (p.Ala1773=) c.6066G= (p.Ala2022=) | |
16 | g.3728975C>G | CA493393895 | CREBBP | c.6072G>C (p.Ala2024=) c.5958G>C (p.Ala1986=) c.6027G>C (p.Ala2009=) c.5655G>C (p.Ala1885=) c.5811G>C (p.Ala1937=) c.6018G>C (p.Ala2006=) c.5319G>C (p.Ala1773=) c.6066G>C (p.Ala2022=) | dbSNP |
16 | g.3728975C>T | CA7869186 | CREBBP | c.6072G>A (p.Ala2024=) c.5958G>A (p.Ala1986=) c.6027G>A (p.Ala2009=) c.5655G>A (p.Ala1885=) c.5811G>A (p.Ala1937=) c.6018G>A (p.Ala2006=) c.5319G>A (p.Ala1773=) c.6066G>A (p.Ala2022=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.3728976G>A | CA7869187 | CREBBP | c.6071C>T (p.Ala2024Val) c.5957C>T (p.Ala1986Val) c.6026C>T (p.Ala2009Val) c.5654C>T (p.Ala1885Val) c.5810C>T (p.Ala1937Val) c.6017C>T (p.Ala2006Val) c.5318C>T (p.Ala1773Val) c.6065C>T (p.Ala2022Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728976G>C | CA394554352 | CREBBP | c.6071C>G (p.Ala2024Gly) c.5957C>G (p.Ala1986Gly) c.6026C>G (p.Ala2009Gly) c.5654C>G (p.Ala1885Gly) c.5810C>G (p.Ala1937Gly) c.6017C>G (p.Ala2006Gly) c.5318C>G (p.Ala1773Gly) c.6065C>G (p.Ala2022Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.3728976G= | CA2202916144 | CREBBP | c.6071C= (p.Ala2024=) c.5957C= (p.Ala1986=) c.6026C= (p.Ala2009=) c.5654C= (p.Ala1885=) c.5810C= (p.Ala1937=) c.6017C= (p.Ala2006=) c.5318C= (p.Ala1773=) c.6065C= (p.Ala2022=) | |
16 | g.3728976G>T | CA394554354 | CREBBP | c.6071C>A (p.Ala2024Glu) c.5957C>A (p.Ala1986Glu) c.6026C>A (p.Ala2009Glu) c.5654C>A (p.Ala1885Glu) c.5810C>A (p.Ala1937Glu) c.6017C>A (p.Ala2006Glu) c.5318C>A (p.Ala1773Glu) c.6065C>A (p.Ala2022Glu) | dbSNP gnomAD v4 |
16 | g.3728979_3728985del | CA2695222618 | CREBBP | c.6065_6071del (p.Gln2022ArgfsTer16) c.5951_5957del (p.Gln1984ArgfsTer16) c.6020_6026del (p.Gln2007ArgfsTer16) c.5648_5654del (p.Gln1883ArgfsTer16) c.5804_5810del (p.Gln1935ArgfsTer16) c.6011_6017del (p.Gln2004ArgfsTer16) c.5312_5318del (p.Gln1771ArgfsTer16) c.6059_6065del (p.Gln2020ArgfsTer16) | |
16 | g.3728977C>A | CA394554356 | CREBBP | c.6070G>T (p.Ala2024Ser) c.5956G>T (p.Ala1986Ser) c.6025G>T (p.Ala2009Ser) c.5653G>T (p.Ala1885Ser) c.5809G>T (p.Ala1937Ser) c.6016G>T (p.Ala2006Ser) c.5317G>T (p.Ala1773Ser) c.6064G>T (p.Ala2022Ser) | dbSNP |
16 | g.3728977C>G | CA394554358 | CREBBP | c.6070G>C (p.Ala2024Pro) c.5956G>C (p.Ala1986Pro) c.6025G>C (p.Ala2009Pro) c.5653G>C (p.Ala1885Pro) c.5809G>C (p.Ala1937Pro) c.6016G>C (p.Ala2006Pro) c.5317G>C (p.Ala1773Pro) c.6064G>C (p.Ala2022Pro) | dbSNP |
16 | g.3728977C>T | CA394554360 | CREBBP | c.6070G>A (p.Ala2024Thr) c.5956G>A (p.Ala1986Thr) c.6025G>A (p.Ala2009Thr) c.5653G>A (p.Ala1885Thr) c.5809G>A (p.Ala1937Thr) c.6016G>A (p.Ala2006Thr) c.5317G>A (p.Ala1773Thr) c.6064G>A (p.Ala2022Thr) | dbSNP |
16 | g.3728978C>A | CA394554362 | CREBBP | c.6069G>T (p.Gln2023His) c.5955G>T (p.Gln1985His) c.6024G>T (p.Gln2008His) c.5652G>T (p.Gln1884His) c.5808G>T (p.Gln1936His) c.6015G>T (p.Gln2005His) c.5316G>T (p.Gln1772His) c.6063G>T (p.Gln2021His) | dbSNP |
16 | g.3728978C= | CA2202916145 | CREBBP | c.6069G= (p.Gln2023=) c.5955G= (p.Gln1985=) c.6024G= (p.Gln2008=) c.5652G= (p.Gln1884=) c.5808G= (p.Gln1936=) c.6015G= (p.Gln2005=) c.5316G= (p.Gln1772=) c.6063G= (p.Gln2021=) | |
16 | g.3728978C>G | CA394554364 | CREBBP | c.6069G>C (p.Gln2023His) c.5955G>C (p.Gln1985His) c.6024G>C (p.Gln2008His) c.5652G>C (p.Gln1884His) c.5808G>C (p.Gln1936His) c.6015G>C (p.Gln2005His) c.5316G>C (p.Gln1772His) c.6063G>C (p.Gln2021His) | dbSNP |
16 | g.3728978C>T | CA493393902 | CREBBP | c.6069G>A (p.Gln2023=) c.5955G>A (p.Gln1985=) c.6024G>A (p.Gln2008=) c.5652G>A (p.Gln1884=) c.5808G>A (p.Gln1936=) c.6015G>A (p.Gln2005=) c.5316G>A (p.Gln1772=) c.6063G>A (p.Gln2021=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.3728979T>A | CA394554366 | CREBBP | c.6068A>T (p.Gln2023Leu) c.5954A>T (p.Gln1985Leu) c.6023A>T (p.Gln2008Leu) c.5651A>T (p.Gln1884Leu) c.5807A>T (p.Gln1936Leu) c.6014A>T (p.Gln2005Leu) c.5315A>T (p.Gln1772Leu) c.6062A>T (p.Gln2021Leu) | |
16 | g.3728979T>C | CA394554367 | CREBBP | c.6068A>G (p.Gln2023Arg) c.5954A>G (p.Gln1985Arg) c.6023A>G (p.Gln2008Arg) c.5651A>G (p.Gln1884Arg) c.5807A>G (p.Gln1936Arg) c.6014A>G (p.Gln2005Arg) c.5315A>G (p.Gln1772Arg) c.6062A>G (p.Gln2021Arg) | dbSNP |
16 | g.3728979T>G | CA394554369 | CREBBP | c.6068A>C (p.Gln2023Pro) c.5954A>C (p.Gln1985Pro) c.6023A>C (p.Gln2008Pro) c.5651A>C (p.Gln1884Pro) c.5807A>C (p.Gln1936Pro) c.6014A>C (p.Gln2005Pro) c.5315A>C (p.Gln1772Pro) c.6062A>C (p.Gln2021Pro) | |
16 | g.3728980G>A | CA394554372 | CREBBP | c.6067C>T (p.Gln2023Ter) c.5953C>T (p.Gln1985Ter) c.6022C>T (p.Gln2008Ter) c.5650C>T (p.Gln1884Ter) c.5806C>T (p.Gln1936Ter) c.6013C>T (p.Gln2005Ter) c.5314C>T (p.Gln1772Ter) c.6061C>T (p.Gln2021Ter) | dbSNP gnomAD v4 |
16 | g.3728980G>C | CA394554373 | CREBBP | c.6067C>G (p.Gln2023Glu) c.5953C>G (p.Gln1985Glu) c.6022C>G (p.Gln2008Glu) c.5650C>G (p.Gln1884Glu) c.5806C>G (p.Gln1936Glu) c.6013C>G (p.Gln2005Glu) c.5314C>G (p.Gln1772Glu) c.6061C>G (p.Gln2021Glu) | dbSNP gnomAD v4 |
16 | g.3728980G>T | CA394554374 | CREBBP | c.6067C>A (p.Gln2023Lys) c.5953C>A (p.Gln1985Lys) c.6022C>A (p.Gln2008Lys) c.5650C>A (p.Gln1884Lys) c.5806C>A (p.Gln1936Lys) c.6013C>A (p.Gln2005Lys) c.5314C>A (p.Gln1772Lys) c.6061C>A (p.Gln2021Lys) | dbSNP gnomAD v4 |
16 | g.3728981C>A | CA394554376 | CREBBP | c.6066G>T (p.Gln2022His) c.5952G>T (p.Gln1984His) c.6021G>T (p.Gln2007His) c.5649G>T (p.Gln1883His) c.5805G>T (p.Gln1935His) c.6012G>T (p.Gln2004His) c.5313G>T (p.Gln1771His) c.6060G>T (p.Gln2020His) | gnomAD v4 |
16 | g.3728981C>G | CA394554378 | CREBBP | c.6066G>C (p.Gln2022His) c.5952G>C (p.Gln1984His) c.6021G>C (p.Gln2007His) c.5649G>C (p.Gln1883His) c.5805G>C (p.Gln1935His) c.6012G>C (p.Gln2004His) c.5313G>C (p.Gln1771His) c.6060G>C (p.Gln2020His) | |
16 | g.3728981C>T | CA493393910 | CREBBP | c.6066G>A (p.Gln2022=) c.5952G>A (p.Gln1984=) c.6021G>A (p.Gln2007=) c.5649G>A (p.Gln1883=) c.5805G>A (p.Gln1935=) c.6012G>A (p.Gln2004=) c.5313G>A (p.Gln1771=) c.6060G>A (p.Gln2020=) | gnomAD v4 COSMIC |
16 | g.3728982T>A | CA394554379 | CREBBP | c.6065A>T (p.Gln2022Leu) c.5951A>T (p.Gln1984Leu) c.6020A>T (p.Gln2007Leu) c.5648A>T (p.Gln1883Leu) c.5804A>T (p.Gln1935Leu) c.6011A>T (p.Gln2004Leu) c.5312A>T (p.Gln1771Leu) c.6059A>T (p.Gln2020Leu) | dbSNP |
16 | g.3728982T>C | CA394554380 | CREBBP | c.6065A>G (p.Gln2022Arg) c.5951A>G (p.Gln1984Arg) c.6020A>G (p.Gln2007Arg) c.5648A>G (p.Gln1883Arg) c.5804A>G (p.Gln1935Arg) c.6011A>G (p.Gln2004Arg) c.5312A>G (p.Gln1771Arg) c.6059A>G (p.Gln2020Arg) | dbSNP |
16 | g.3728982T>G | CA394554382 | CREBBP | c.6065A>C (p.Gln2022Pro) c.5951A>C (p.Gln1984Pro) c.6020A>C (p.Gln2007Pro) c.5648A>C (p.Gln1883Pro) c.5804A>C (p.Gln1935Pro) c.6011A>C (p.Gln2004Pro) c.5312A>C (p.Gln1771Pro) c.6059A>C (p.Gln2020Pro) | |
16 | g.3728983G>A | CA394554384 | CREBBP | c.6064C>T (p.Gln2022Ter) c.5950C>T (p.Gln1984Ter) c.6019C>T (p.Gln2007Ter) c.5647C>T (p.Gln1883Ter) c.5803C>T (p.Gln1935Ter) c.6010C>T (p.Gln2004Ter) c.5311C>T (p.Gln1771Ter) c.6058C>T (p.Gln2020Ter) | gnomAD v4 |
16 | g.3728983G>C | CA394554386 | CREBBP | c.6064C>G (p.Gln2022Glu) c.5950C>G (p.Gln1984Glu) c.6019C>G (p.Gln2007Glu) c.5647C>G (p.Gln1883Glu) c.5803C>G (p.Gln1935Glu) c.6010C>G (p.Gln2004Glu) c.5311C>G (p.Gln1771Glu) c.6058C>G (p.Gln2020Glu) | gnomAD v4 |
16 | g.3728983G>T | CA394554388 | CREBBP | c.6064C>A (p.Gln2022Lys) c.5950C>A (p.Gln1984Lys) c.6019C>A (p.Gln2007Lys) c.5647C>A (p.Gln1883Lys) c.5803C>A (p.Gln1935Lys) c.6010C>A (p.Gln2004Lys) c.5311C>A (p.Gln1771Lys) c.6058C>A (p.Gln2020Lys) | gnomAD v4 |