| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3727470_3727786delinsAAAACGGAAAAAAAAGAACCCCCCCCACCCCCCCGCCAAAAAAAAACCAAAGAGAGAGACCAGATATTTAAATCAACTGGTTTTTAACAAAAAAATATATTCTTTGTATTGTTTCTTTAAACATCAATCCACCCTTCCATGGCTCGGAAGTCGCAGTTCCATCTAGGAATAAAAAGAACCTAGATGCCTGGATTTTCAGTACAAAAGGTCCAAGAACATGAAAGGGAAAAGGTGATGCTCTCACAATGCTACAAGCCCTCCACAAACTTCTCTAGCGTGTCCCCCGTGGTGTCCCCGACCAGGGACAGTTCGCTGGA | CA2202928149 | CREBBP | c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7261_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2421=]) c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7147_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2383=]) c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7216_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2406=]) c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6844_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2282=]) c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7000_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2334=]) c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7207_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2403=]) c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.6508_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2170=]) c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT (n.[c.7255_*248delinsTCCAGCGAACTGTCCCTGGTCGGGGACACCACGGGGGACACGCTAGAGAAGTTTGTGGAGGGCTTGTAGCATTGTGAGAGCATCACCTTTTCCCTTTCATGTTCTTGGACCTTTTGTACTGAAAATCCAGGCATCTAGGTTCTTTTTATTCCTAGATGGAACTGCGACTTCCGAGCCATGGAAGGGTGGATTGATGTTTAAAGAAACAATACAAAGAATATATTTTTTTGTTAAAAACCAGTTGATTTAAATATCTGGTCTCTCTCTTTGGTTTTTTTTTGGCGGGGGGGTGGGGGGGGTTCTTTTTTTTCCGTTTT;Ser2419=]) | |
| 16 | g.3727471_3727786delinsG | CA658798522 | CREBBP | c.7261_*247delinsC (n.[c.7261_*247delinsC;Ser2421LeufsTer26]) c.7147_*247delinsC (n.[c.7147_*247delinsC;Ser2383LeufsTer26]) c.7216_*247delinsC (n.[c.7216_*247delinsC;Ser2406LeufsTer26]) c.6844_*247delinsC (n.[c.6844_*247delinsC;Ser2282LeufsTer26]) c.7000_*247delinsC (n.[c.7000_*247delinsC;Ser2334LeufsTer26]) c.7207_*247delinsC (n.[c.7207_*247delinsC;Ser2403LeufsTer26]) c.6508_*247delinsC (n.[c.6508_*247delinsC;Ser2170LeufsTer26]) c.7255_*247delinsC (n.[c.7255_*247delinsC;Ser2419LeufsTer26]) | ClinVar dbSNP |
| 16 | g.3727676G>A | CA276970888 | CREBBP | c.*42C>T (n.*42C>T) | dbSNP |
| 16 | g.3727676G>C | CA7868896 | CREBBP | c.*42C>G (n.*42C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727676G= | CA2202928279 | CREBBP | c.*42C= (n.*42C=) | |
| 16 | g.3727676G>T | CA2731577950 | CREBBP | c.*42C>A (n.*42C>A) | dbSNP |
| 16 | g.3727677G>A | CA7868897 | CREBBP | c.*41C>T (n.*41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727677G>C | CA2731576812 | CREBBP | c.*41C>G (n.*41C>G) | dbSNP |
| 16 | g.3727677G= | CA2202928280 | CREBBP | c.*41C= (n.*41C=) | |
| 16 | g.3727677G>T | CA2731576811 | CREBBP | c.*41C>A (n.*41C>A) | dbSNP |
| 16 | g.3727678T>A | CA2731835663 | CREBBP | c.*40A>T (n.*40A>T) | dbSNP |
| 16 | g.3727678T>C | CA2631401157 | CREBBP | c.*40A>G (n.*40A>G) | dbSNP gnomAD v4 |
| 16 | g.3727678T>G | CA2731835661 | CREBBP | c.*40A>C (n.*40A>C) | dbSNP |
| 16 | g.3727679C>A | CA2202928281 | CREBBP | c.*39G>T (n.*39G>T) | dbSNP |
| 16 | g.3727679C= | CA2202928282 | CREBBP | c.*39G= (n.*39G=) | |
| 16 | g.3727679C>G | CA2731646511 | CREBBP | c.*39G>C (n.*39G>C) | dbSNP |
| 16 | g.3727679C>T | CA2575893797 | CREBBP | c.*39G>A (n.*39G>A) | dbSNP |
| 16 | g.3727681A= | CA2202928283 | CREBBP | c.*37T= (n.*37T=) | |
| 16 | g.3727681A>G | CA2631401158 | CREBBP | c.*37T>C (n.*37T>C) | gnomAD v4 |
| 16 | g.3727681A>T | CA620714426 | CREBBP | c.*37T>A (n.*37T>A) | dbSNP gnomAD v2 |
| 16 | g.3727682A= | CA2202928284 | CREBBP | c.*36T= (n.*36T=) | |
| 16 | g.3727682A>G | CA7868898 | CREBBP | c.*36T>C (n.*36T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727682A>T | CA2731577407 | CREBBP | c.*36T>A (n.*36T>A) | dbSNP |
| 16 | g.3727683G>A | CA2202928286 | CREBBP | c.*35C>T (n.*35C>T) | dbSNP gnomAD v4 |
| 16 | g.3727683G>C | CA2731646514 | CREBBP | c.*35C>G (n.*35C>G) | dbSNP |
| 16 | g.3727683G= | CA2202928285 | CREBBP | c.*35C= (n.*35C=) | |
| 16 | g.3727683G>T | CA2731646513 | CREBBP | c.*35C>A (n.*35C>A) | dbSNP |
| 16 | g.3727684A>G | CA2805620967 | CREBBP | c.*34T>C (n.*34T>C) | |
| 16 | g.3727684A>T | CA2731835679 | CREBBP | c.*34T>A (n.*34T>A) | dbSNP |
| 16 | g.3727685A>G | CA2631401159 | CREBBP | c.*33T>C (n.*33T>C) | gnomAD v4 |
| 16 | g.3727686C>A | CA2731573985 | CREBBP | c.*32G>T (n.*32G>T) | dbSNP |
| 16 | g.3727686C= | CA2202928287 | CREBBP | c.*32G= (n.*32G=) | |
| 16 | g.3727686C>G | CA7868899 | CREBBP | c.*32G>C (n.*32G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727686C>T | CA720731991 | CREBBP | c.*32G>A (n.*32G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727688T>C | CA620714427 | CREBBP | c.*30A>G (n.*30A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727688T= | CA2202928288 | CREBBP | c.*30A= (n.*30A=) | |
| 16 | g.3727689G>A | CA2575893798 | CREBBP | c.*29C>T (n.*29C>T) | gnomAD v4 |
| 16 | g.3727689G>T | CA2631401163 | CREBBP | c.*29C>A (n.*29C>A) | gnomAD v4 |
| 16 | g.3727689_3727691delinsGAA | CA2202928289 | CREBBP | c.*27_*29delinsTTC (n.*27_*29delinsTTC) | |
| 16 | g.3727690A= | CA2202928290 | CREBBP | c.*28T= (n.*28T=) | |
| 16 | g.3727690A>G | CA7868901 | CREBBP | c.*28T>C (n.*28T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727690A>T | CA2731574865 | CREBBP | c.*28T>A (n.*28T>A) | dbSNP |
| 16 | g.3727692dup | CA276970893 | CREBBP | c.*28dup (n.*28dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727692del | CA7868900 | CREBBP | c.*28del (n.*28del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727691_3727692del | CA2202928291 | CREBBP | c.*27_*28del (n.*27_*28del) | dbSNP |
| 16 | g.3727691A= | CA2202928292 | CREBBP | c.*27T= (n.*27T=) | |
| 16 | g.3727691A>C | CA620714428 | CREBBP | c.*27T>G (n.*27T>G) | dbSNP gnomAD v2 |
| 16 | g.3727691A>G | CA2731599168 | CREBBP | c.*27T>C (n.*27T>C) | dbSNP |
| 16 | g.3727692A= | CA2202928293 | CREBBP | c.*26T= (n.*26T=) | |
| 16 | g.3727692A>C | CA2631401164 | CREBBP | c.*26T>G (n.*26T>G) | gnomAD v4 |
| 16 | g.3727692A>G | CA7868903 | CREBBP | c.*26T>C (n.*26T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727692A>T | CA2566595819 | CREBBP | c.*26T>A (n.*26T>A) | |
| 16 | g.3727693G>C | CA2575893799 | CREBBP | c.*25C>G (n.*25C>G) | gnomAD v4 |
| 16 | g.3727695dup | CA7868902 | CREBBP | c.*25dup (n.*25dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727694G>A | CA2631401165 | CREBBP | c.*24C>T (n.*24C>T) | gnomAD v4 |
| 16 | g.3727695G>C | CA2575893800 | CREBBP | c.*23C>G (n.*23C>G) | gnomAD v4 |
| 16 | g.3727695_3727696delinsGA | CA2202928294 | CREBBP | c.*22_*23delinsTC (n.*22_*23delinsTC) | |
| 16 | g.3727695_3727696insGAAAAA | CA2805620974 | CREBBP | c.*22_*23insTTTTTC (n.*22_*23insTTTTTC) | |
| 16 | g.3727696A= | CA2202928295 | CREBBP | c.*22T= (n.*22T=) | |
| 16 | g.3727696A>C | CA2581245758 | CREBBP | c.*22T>G (n.*22T>G) | |
| 16 | g.3727696A>G | CA7868905 | CREBBP | c.*22T>C (n.*22T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727696A>T | CA2581245759 | CREBBP | c.*22T>A (n.*22T>A) | dbSNP gnomAD v4 |
| 16 | g.3727699del | CA7868904 | CREBBP | c.*22del (n.*22del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727698A>C | CA2631401166 | CREBBP | c.*20T>G (n.*20T>G) | gnomAD v4 |
| 16 | g.3727699A>C | CA2731835765 | CREBBP | c.*19T>G (n.*19T>G) | dbSNP |
| 16 | g.3727699A>G | CA2731835705 | CREBBP | c.*19T>C (n.*19T>C) | dbSNP |
| 16 | g.3727699A>T | CA2731835814 | CREBBP | c.*19T>A (n.*19T>A) | dbSNP |
| 16 | g.3727700G>A | CA620714429 | CREBBP | c.*18C>T (n.*18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727700G= | CA2202928296 | CREBBP | c.*18C= (n.*18C=) | |
| 16 | g.3727701G>A | CA2731646515 | CREBBP | c.*17C>T (n.*17C>T) | dbSNP |
| 16 | g.3727701G>C | CA2202928298 | CREBBP | c.*17C>G (n.*17C>G) | dbSNP |
| 16 | g.3727701G= | CA2202928297 | CREBBP | c.*17C= (n.*17C=) | |
| 16 | g.3727702T>A | CA2731576261 | CREBBP | c.*16A>T (n.*16A>T) | dbSNP |
| 16 | g.3727702T>C | CA7868907 | CREBBP | c.*16A>G (n.*16A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727702T>G | CA2731576260 | CREBBP | c.*16A>C (n.*16A>C) | dbSNP |
| 16 | g.3727702T= | CA2202928299 | CREBBP | c.*16A= (n.*16A=) | |
| 16 | g.3727704_3727706dup | CA7868906 | CREBBP | c.*14_*16dup (n.*14_*16dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727703G>A | CA2731836028 | CREBBP | c.*15C>T (n.*15C>T) | dbSNP |
| 16 | g.3727703G>C | CA2731836029 | CREBBP | c.*15C>G (n.*15C>G) | dbSNP |
| 16 | g.3727704A= | CA2202928300 | CREBBP | c.*14T= (n.*14T=) | |
| 16 | g.3727704A>G | CA973914943 | CREBBP | c.*14T>C (n.*14T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727705T>A | CA2731646517 | CREBBP | c.*13A>T (n.*13A>T) | dbSNP |
| 16 | g.3727705T>C | CA2202928302 | CREBBP | c.*13A>G (n.*13A>G) | dbSNP |
| 16 | g.3727705T>G | CA2731646519 | CREBBP | c.*13A>C (n.*13A>C) | dbSNP |
| 16 | g.3727705T= | CA2202928301 | CREBBP | c.*13A= (n.*13A=) | |
| 16 | g.3727706G>A | CA7868908 | CREBBP | c.*12C>T (n.*12C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727706G= | CA2202928303 | CREBBP | c.*12C= (n.*12C=) | |
| 16 | g.3727707C>A | CA2631401167 | CREBBP | c.*11G>T (n.*11G>T) | dbSNP gnomAD v4 |
| 16 | g.3727707C= | CA2202928304 | CREBBP | c.*11G= (n.*11G=) | |
| 16 | g.3727707C>G | CA2731617665 | CREBBP | c.*11G>C (n.*11G>C) | dbSNP |
| 16 | g.3727707C>T | CA720732021 | CREBBP | c.*11G>A (n.*11G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727708T>A | CA2731579631 | CREBBP | c.*10A>T (n.*10A>T) | dbSNP |
| 16 | g.3727708T>C | CA973914944 | CREBBP | c.*10A>G (n.*10A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727708T>G | CA7868909 | CREBBP | c.*10A>C (n.*10A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727708T= | CA2202928305 | CREBBP | c.*10A= (n.*10A=) | |
| 16 | g.3727709C>A | CA2731836033 | CREBBP | c.*9G>T (n.*9G>T) | dbSNP |
| 16 | g.3727709C>T | CA2631401168 | CREBBP | c.*9G>A (n.*9G>A) | dbSNP gnomAD v4 |
| 16 | g.3727710T>C | CA2631401169 | CREBBP | c.*8A>G (n.*8A>G) | dbSNP gnomAD v4 |
| 16 | g.3727711C>A | CA2731592670 | CREBBP | c.*7G>T (n.*7G>T) | dbSNP |
| 16 | g.3727711C= | CA2202928306 | CREBBP | c.*7G= (n.*7G=) | |
| 16 | g.3727711C>G | CA2202928307 | CREBBP | c.*7G>C (n.*7G>C) | dbSNP |
| 16 | g.3727711C>T | CA276970918 | CREBBP | c.*7G>A (n.*7G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727713_3727714del | CA2575893801 | CREBBP | c.*6_*7del (n.*6_*7del) | gnomAD v4 |
| 16 | g.3727712A>G | CA2731836211 | CREBBP | c.*6T>C (n.*6T>C) | dbSNP |
| 16 | g.3727712A>T | CA2731836082 | CREBBP | c.*6T>A (n.*6T>A) | dbSNP |
| 16 | g.3727713C>A | CA2631401170 | CREBBP | c.*5G>T (n.*5G>T) | dbSNP gnomAD v4 |
| 16 | g.3727713C>G | CA2731836262 | CREBBP | c.*5G>C (n.*5G>C) | dbSNP |
| 16 | g.3727713C>T | CA2731836214 | CREBBP | c.*5G>A (n.*5G>A) | dbSNP |
| 16 | g.3727714A>G | CA2731836290 | CREBBP | c.*4T>C (n.*4T>C) | dbSNP |
| 16 | g.3727714A>T | CA2731836306 | CREBBP | c.*4T>A (n.*4T>A) | dbSNP |
| 16 | g.3727715A>G | CA2731836325 | CREBBP | c.*3T>C (n.*3T>C) | dbSNP |
| 16 | g.3727715A>T | CA2731836340 | CREBBP | c.*3T>A (n.*3T>A) | dbSNP |
| 16 | g.3727716T>A | CA2731836343 | CREBBP | c.*2A>T (n.*2A>T) | dbSNP |
| 16 | g.3727717G>A | CA2731836409 | CREBBP | c.*1C>T (n.*1C>T) | dbSNP |
| 16 | g.3727717G>C | CA2631401171 | CREBBP | c.*1C>G (n.*1C>G) | dbSNP gnomAD v4 |
| 16 | g.3727718C>A | CA394550051 | CREBBP | c.7329G>T (p.Ter2443Tyr) c.7215G>T (p.Ter2405Tyr) c.7284G>T (p.Ter2428Tyr) c.6912G>T (p.Ter2304Tyr) c.7068G>T (p.Ter2356Tyr) c.7275G>T (p.Ter2425Tyr) c.6576G>T (p.Ter2192Tyr) c.7323G>T (p.Ter2441Tyr) | COSMIC |
| 16 | g.3727718C>G | CA394550052 | CREBBP | c.7329G>C (p.Ter2443Tyr) c.7215G>C (p.Ter2405Tyr) c.7284G>C (p.Ter2428Tyr) c.6912G>C (p.Ter2304Tyr) c.7068G>C (p.Ter2356Tyr) c.7275G>C (p.Ter2425Tyr) c.6576G>C (p.Ter2192Tyr) c.7323G>C (p.Ter2441Tyr) | dbSNP |
| 16 | g.3727718C>T | CA493393007 | CREBBP | c.7329G>A (p.Ter2443=) c.7215G>A (p.Ter2405=) c.7284G>A (p.Ter2428=) c.6912G>A (p.Ter2304=) c.7068G>A (p.Ter2356=) c.7275G>A (p.Ter2425=) c.6576G>A (p.Ter2192=) c.7323G>A (p.Ter2441=) | dbSNP |
| 16 | g.3727719T>A | CA394550053 | CREBBP | c.7328A>T (p.Ter2443Leu) c.7214A>T (p.Ter2405Leu) c.7283A>T (p.Ter2428Leu) c.6911A>T (p.Ter2304Leu) c.7067A>T (p.Ter2356Leu) c.7274A>T (p.Ter2425Leu) c.6575A>T (p.Ter2192Leu) c.7322A>T (p.Ter2441Leu) | dbSNP |
| 16 | g.3727719T>C | CA394550054 | CREBBP | c.7328A>G (p.Ter2443Trp) c.7214A>G (p.Ter2405Trp) c.7283A>G (p.Ter2428Trp) c.6911A>G (p.Ter2304Trp) c.7067A>G (p.Ter2356Trp) c.7274A>G (p.Ter2425Trp) c.6575A>G (p.Ter2192Trp) c.7322A>G (p.Ter2441Trp) | dbSNP |
| 16 | g.3727719T>G | CA394550055 | CREBBP | c.7328A>C (p.Ter2443Ser) c.7214A>C (p.Ter2405Ser) c.7283A>C (p.Ter2428Ser) c.6911A>C (p.Ter2304Ser) c.7067A>C (p.Ter2356Ser) c.7274A>C (p.Ter2425Ser) c.6575A>C (p.Ter2192Ser) c.7322A>C (p.Ter2441Ser) | |
| 16 | g.3727720A>C | CA394550056 | CREBBP | c.7327T>G (p.Ter2443Glu) c.7213T>G (p.Ter2405Glu) c.7282T>G (p.Ter2428Glu) c.6910T>G (p.Ter2304Glu) c.7066T>G (p.Ter2356Glu) c.7273T>G (p.Ter2425Glu) c.6574T>G (p.Ter2192Glu) c.7321T>G (p.Ter2441Glu) | |
| 16 | g.3727720A>G | CA394550057 | CREBBP | c.7327T>C (p.Ter2443Gln) c.7213T>C (p.Ter2405Gln) c.7282T>C (p.Ter2428Gln) c.6910T>C (p.Ter2304Gln) c.7066T>C (p.Ter2356Gln) c.7273T>C (p.Ter2425Gln) c.6574T>C (p.Ter2192Gln) c.7321T>C (p.Ter2441Gln) | |
| 16 | g.3727720A>T | CA394550058 | CREBBP | c.7327T>A (p.Ter2443Lys) c.7213T>A (p.Ter2405Lys) c.7282T>A (p.Ter2428Lys) c.6910T>A (p.Ter2304Lys) c.7066T>A (p.Ter2356Lys) c.7273T>A (p.Ter2425Lys) c.6574T>A (p.Ter2192Lys) c.7321T>A (p.Ter2441Lys) | dbSNP |
| 16 | g.3727721C>A | CA394550059 | CREBBP | c.7326G>T (p.Leu2442Phe) c.7212G>T (p.Leu2404Phe) c.7281G>T (p.Leu2427Phe) c.6909G>T (p.Leu2303Phe) c.7065G>T (p.Leu2355Phe) c.7272G>T (p.Leu2424Phe) c.6573G>T (p.Leu2191Phe) c.7320G>T (p.Leu2440Phe) | |
| 16 | g.3727721C= | CA2202928308 | CREBBP | c.7326G= (p.Leu2442=) c.7212G= (p.Leu2404=) c.7281G= (p.Leu2427=) c.6909G= (p.Leu2303=) c.7065G= (p.Leu2355=) c.7272G= (p.Leu2424=) c.6573G= (p.Leu2191=) c.7320G= (p.Leu2440=) | |
| 16 | g.3727721C>G | CA394550060 | CREBBP | c.7326G>C (p.Leu2442Phe) c.7212G>C (p.Leu2404Phe) c.7281G>C (p.Leu2427Phe) c.6909G>C (p.Leu2303Phe) c.7065G>C (p.Leu2355Phe) c.7272G>C (p.Leu2424Phe) c.6573G>C (p.Leu2191Phe) c.7320G>C (p.Leu2440Phe) | |
| 16 | g.3727721C>T | CA7868910 | CREBBP | c.7326G>A (p.Leu2442=) c.7212G>A (p.Leu2404=) c.7281G>A (p.Leu2427=) c.6909G>A (p.Leu2303=) c.7065G>A (p.Leu2355=) c.7272G>A (p.Leu2424=) c.6573G>A (p.Leu2191=) c.7320G>A (p.Leu2440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727722A>C | CA394550061 | CREBBP | c.7325T>G (p.Leu2442Trp) c.7211T>G (p.Leu2404Trp) c.7280T>G (p.Leu2427Trp) c.6908T>G (p.Leu2303Trp) c.7064T>G (p.Leu2355Trp) c.7271T>G (p.Leu2424Trp) c.6572T>G (p.Leu2191Trp) c.7319T>G (p.Leu2440Trp) | |
| 16 | g.3727722A>G | CA394550062 | CREBBP | c.7325T>C (p.Leu2442Ser) c.7211T>C (p.Leu2404Ser) c.7280T>C (p.Leu2427Ser) c.6908T>C (p.Leu2303Ser) c.7064T>C (p.Leu2355Ser) c.7271T>C (p.Leu2424Ser) c.6572T>C (p.Leu2191Ser) c.7319T>C (p.Leu2440Ser) | dbSNP gnomAD v4 |
| 16 | g.3727722A>T | CA394550063 | CREBBP | c.7325T>A (p.Leu2442Ter) c.7211T>A (p.Leu2404Ter) c.7280T>A (p.Leu2427Ter) c.6908T>A (p.Leu2303Ter) c.7064T>A (p.Leu2355Ter) c.7271T>A (p.Leu2424Ter) c.6572T>A (p.Leu2191Ter) c.7319T>A (p.Leu2440Ter) | dbSNP |
| 16 | g.3727723A= | CA2202928309 | CREBBP | c.7324T= (p.Leu2442=) c.7210T= (p.Leu2404=) c.7279T= (p.Leu2427=) c.6907T= (p.Leu2303=) c.7063T= (p.Leu2355=) c.7270T= (p.Leu2424=) c.6571T= (p.Leu2191=) c.7318T= (p.Leu2440=) | |
| 16 | g.3727723A>C | CA394550065 | CREBBP | c.7324T>G (p.Leu2442Val) c.7210T>G (p.Leu2404Val) c.7279T>G (p.Leu2427Val) c.6907T>G (p.Leu2303Val) c.7063T>G (p.Leu2355Val) c.7270T>G (p.Leu2424Val) c.6571T>G (p.Leu2191Val) c.7318T>G (p.Leu2440Val) | |
| 16 | g.3727723A>G | CA493393009 | CREBBP | c.7324T>C (p.Leu2442=) c.7210T>C (p.Leu2404=) c.7279T>C (p.Leu2427=) c.6907T>C (p.Leu2303=) c.7063T>C (p.Leu2355=) c.7270T>C (p.Leu2424=) c.6571T>C (p.Leu2191=) c.7318T>C (p.Leu2440=) | dbSNP gnomAD v4 |
| 16 | g.3727723A>T | CA394550064 | CREBBP | c.7324T>A (p.Leu2442Met) c.7210T>A (p.Leu2404Met) c.7279T>A (p.Leu2427Met) c.6907T>A (p.Leu2303Met) c.7063T>A (p.Leu2355Met) c.7270T>A (p.Leu2424Met) c.6571T>A (p.Leu2191Met) c.7318T>A (p.Leu2440Met) | dbSNP |
| 16 | g.3727724G>A | CA276970924 | CREBBP | c.7323C>T (p.Gly2441=) c.7209C>T (p.Gly2403=) c.7278C>T (p.Gly2426=) c.6906C>T (p.Gly2302=) c.7062C>T (p.Gly2354=) c.7269C>T (p.Gly2423=) c.6570C>T (p.Gly2190=) c.7317C>T (p.Gly2439=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3727724G>C | CA493393011 | CREBBP | c.7323C>G (p.Gly2441=) c.7209C>G (p.Gly2403=) c.7278C>G (p.Gly2426=) c.6906C>G (p.Gly2302=) c.7062C>G (p.Gly2354=) c.7269C>G (p.Gly2423=) c.6570C>G (p.Gly2190=) c.7317C>G (p.Gly2439=) | dbSNP |
| 16 | g.3727724G= | CA2202928310 | CREBBP | c.7323C= (p.Gly2441=) c.7209C= (p.Gly2403=) c.7278C= (p.Gly2426=) c.6906C= (p.Gly2302=) c.7062C= (p.Gly2354=) c.7269C= (p.Gly2423=) c.6570C= (p.Gly2190=) c.7317C= (p.Gly2439=) | |
| 16 | g.3727724G>T | CA493393010 | CREBBP | c.7323C>A (p.Gly2441=) c.7209C>A (p.Gly2403=) c.7278C>A (p.Gly2426=) c.6906C>A (p.Gly2302=) c.7062C>A (p.Gly2354=) c.7269C>A (p.Gly2423=) c.6570C>A (p.Gly2190=) c.7317C>A (p.Gly2439=) | |
| 16 | g.3727725C>A | CA394550066 | CREBBP | c.7322G>T (p.Gly2441Val) c.7208G>T (p.Gly2403Val) c.7277G>T (p.Gly2426Val) c.6905G>T (p.Gly2302Val) c.7061G>T (p.Gly2354Val) c.7268G>T (p.Gly2423Val) c.6569G>T (p.Gly2190Val) c.7316G>T (p.Gly2439Val) | gnomAD v4 |
| 16 | g.3727725C>G | CA394550067 | CREBBP | c.7322G>C (p.Gly2441Ala) c.7208G>C (p.Gly2403Ala) c.7277G>C (p.Gly2426Ala) c.6905G>C (p.Gly2302Ala) c.7061G>C (p.Gly2354Ala) c.7268G>C (p.Gly2423Ala) c.6569G>C (p.Gly2190Ala) c.7316G>C (p.Gly2439Ala) | |
| 16 | g.3727725C>T | CA394550068 | CREBBP | c.7322G>A (p.Gly2441Asp) c.7208G>A (p.Gly2403Asp) c.7277G>A (p.Gly2426Asp) c.6905G>A (p.Gly2302Asp) c.7061G>A (p.Gly2354Asp) c.7268G>A (p.Gly2423Asp) c.6569G>A (p.Gly2190Asp) c.7316G>A (p.Gly2439Asp) | dbSNP |
| 16 | g.3727726C>A | CA394550069 | CREBBP | c.7321G>T (p.Gly2441Cys) c.7207G>T (p.Gly2403Cys) c.7276G>T (p.Gly2426Cys) c.6904G>T (p.Gly2302Cys) c.7060G>T (p.Gly2354Cys) c.7267G>T (p.Gly2423Cys) c.6568G>T (p.Gly2190Cys) c.7315G>T (p.Gly2439Cys) | dbSNP |
| 16 | g.3727726C= | CA2202928311 | CREBBP | c.7321G= (p.Gly2441=) c.7207G= (p.Gly2403=) c.7276G= (p.Gly2426=) c.6904G= (p.Gly2302=) c.7060G= (p.Gly2354=) c.7267G= (p.Gly2423=) c.6568G= (p.Gly2190=) c.7315G= (p.Gly2439=) | |
| 16 | g.3727726C>G | CA394550070 | CREBBP | c.7321G>C (p.Gly2441Arg) c.7207G>C (p.Gly2403Arg) c.7276G>C (p.Gly2426Arg) c.6904G>C (p.Gly2302Arg) c.7060G>C (p.Gly2354Arg) c.7267G>C (p.Gly2423Arg) c.6568G>C (p.Gly2190Arg) c.7315G>C (p.Gly2439Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727726C>T | CA394550071 | CREBBP | c.7321G>A (p.Gly2441Ser) c.7207G>A (p.Gly2403Ser) c.7276G>A (p.Gly2426Ser) c.6904G>A (p.Gly2302Ser) c.7060G>A (p.Gly2354Ser) c.7267G>A (p.Gly2423Ser) c.6568G>A (p.Gly2190Ser) c.7315G>A (p.Gly2439Ser) | dbSNP gnomAD v4 |
| 16 | g.3727727C>A | CA394550072 | CREBBP | c.7320G>T (p.Glu2440Asp) c.7206G>T (p.Glu2402Asp) c.7275G>T (p.Glu2425Asp) c.6903G>T (p.Glu2301Asp) c.7059G>T (p.Glu2353Asp) c.7266G>T (p.Glu2422Asp) c.6567G>T (p.Glu2189Asp) c.7314G>T (p.Glu2438Asp) | dbSNP |
| 16 | g.3727727C= | CA2202928312 | CREBBP | c.7320G= (p.Glu2440=) c.7206G= (p.Glu2402=) c.7275G= (p.Glu2425=) c.6903G= (p.Glu2301=) c.7059G= (p.Glu2353=) c.7266G= (p.Glu2422=) c.6567G= (p.Glu2189=) c.7314G= (p.Glu2438=) | |
| 16 | g.3727727C>G | CA394550073 | CREBBP | c.7320G>C (p.Glu2440Asp) c.7206G>C (p.Glu2402Asp) c.7275G>C (p.Glu2425Asp) c.6903G>C (p.Glu2301Asp) c.7059G>C (p.Glu2353Asp) c.7266G>C (p.Glu2422Asp) c.6567G>C (p.Glu2189Asp) c.7314G>C (p.Glu2438Asp) | |
| 16 | g.3727727C>T | CA493393016 | CREBBP | c.7320G>A (p.Glu2440=) c.7206G>A (p.Glu2402=) c.7275G>A (p.Glu2425=) c.6903G>A (p.Glu2301=) c.7059G>A (p.Glu2353=) c.7266G>A (p.Glu2422=) c.6567G>A (p.Glu2189=) c.7314G>A (p.Glu2438=) | dbSNP gnomAD v4 |
| 16 | g.3727728T>A | CA394550074 | CREBBP | c.7319A>T (p.Glu2440Val) c.7205A>T (p.Glu2402Val) c.7274A>T (p.Glu2425Val) c.6902A>T (p.Glu2301Val) c.7058A>T (p.Glu2353Val) c.7265A>T (p.Glu2422Val) c.6566A>T (p.Glu2189Val) c.7313A>T (p.Glu2438Val) | dbSNP |
| 16 | g.3727728T>C | CA394550075 | CREBBP | c.7319A>G (p.Glu2440Gly) c.7205A>G (p.Glu2402Gly) c.7274A>G (p.Glu2425Gly) c.6902A>G (p.Glu2301Gly) c.7058A>G (p.Glu2353Gly) c.7265A>G (p.Glu2422Gly) c.6566A>G (p.Glu2189Gly) c.7313A>G (p.Glu2438Gly) | dbSNP |
| 16 | g.3727728T>G | CA394550076 | CREBBP | c.7319A>C (p.Glu2440Ala) c.7205A>C (p.Glu2402Ala) c.7274A>C (p.Glu2425Ala) c.6902A>C (p.Glu2301Ala) c.7058A>C (p.Glu2353Ala) c.7265A>C (p.Glu2422Ala) c.6566A>C (p.Glu2189Ala) c.7313A>C (p.Glu2438Ala) | |
| 16 | g.3727729C>A | CA394550078 | CREBBP | c.7318G>T (p.Glu2440Ter) c.7204G>T (p.Glu2402Ter) c.7273G>T (p.Glu2425Ter) c.6901G>T (p.Glu2301Ter) c.7057G>T (p.Glu2353Ter) c.7264G>T (p.Glu2422Ter) c.6565G>T (p.Glu2189Ter) c.7312G>T (p.Glu2438Ter) | |
| 16 | g.3727729C= | CA2202928313 | CREBBP | c.7318G= (p.Glu2440=) c.7204G= (p.Glu2402=) c.7273G= (p.Glu2425=) c.6901G= (p.Glu2301=) c.7057G= (p.Glu2353=) c.7264G= (p.Glu2422=) c.6565G= (p.Glu2189=) c.7312G= (p.Glu2438=) | |
| 16 | g.3727729C>G | CA394550077 | CREBBP | c.7318G>C (p.Glu2440Gln) c.7204G>C (p.Glu2402Gln) c.7273G>C (p.Glu2425Gln) c.6901G>C (p.Glu2301Gln) c.7057G>C (p.Glu2353Gln) c.7264G>C (p.Glu2422Gln) c.6565G>C (p.Glu2189Gln) c.7312G>C (p.Glu2438Gln) | |
| 16 | g.3727729C>T | CA276970927 | CREBBP | c.7318G>A (p.Glu2440Lys) c.7204G>A (p.Glu2402Lys) c.7273G>A (p.Glu2425Lys) c.6901G>A (p.Glu2301Lys) c.7057G>A (p.Glu2353Lys) c.7264G>A (p.Glu2422Lys) c.6565G>A (p.Glu2189Lys) c.7312G>A (p.Glu2438Lys) | dbSNP COSMIC |
| 16 | g.3727730C>A | CA493393017 | CREBBP | c.7317G>T (p.Val2439=) c.7203G>T (p.Val2401=) c.7272G>T (p.Val2424=) c.6900G>T (p.Val2300=) c.7056G>T (p.Val2352=) c.7263G>T (p.Val2421=) c.6564G>T (p.Val2188=) c.7311G>T (p.Val2437=) | dbSNP |
| 16 | g.3727730C= | CA2202928314 | CREBBP | c.7317G= (p.Val2439=) c.7203G= (p.Val2401=) c.7272G= (p.Val2424=) c.6900G= (p.Val2300=) c.7056G= (p.Val2352=) c.7263G= (p.Val2421=) c.6564G= (p.Val2188=) c.7311G= (p.Val2437=) | |
| 16 | g.3727730C>G | CA493393018 | CREBBP | c.7317G>C (p.Val2439=) c.7203G>C (p.Val2401=) c.7272G>C (p.Val2424=) c.6900G>C (p.Val2300=) c.7056G>C (p.Val2352=) c.7263G>C (p.Val2421=) c.6564G>C (p.Val2188=) c.7311G>C (p.Val2437=) | |
| 16 | g.3727730C>T | CA7868911 | CREBBP | c.7317G>A (p.Val2439=) c.7203G>A (p.Val2401=) c.7272G>A (p.Val2424=) c.6900G>A (p.Val2300=) c.7056G>A (p.Val2352=) c.7263G>A (p.Val2421=) c.6564G>A (p.Val2188=) c.7311G>A (p.Val2437=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727731A>C | CA394550079 | CREBBP | c.7316T>G (p.Val2439Gly) c.7202T>G (p.Val2401Gly) c.7271T>G (p.Val2424Gly) c.6899T>G (p.Val2300Gly) c.7055T>G (p.Val2352Gly) c.7262T>G (p.Val2421Gly) c.6563T>G (p.Val2188Gly) c.7310T>G (p.Val2437Gly) | |
| 16 | g.3727731A>G | CA394550080 | CREBBP | c.7316T>C (p.Val2439Ala) c.7202T>C (p.Val2401Ala) c.7271T>C (p.Val2424Ala) c.6899T>C (p.Val2300Ala) c.7055T>C (p.Val2352Ala) c.7262T>C (p.Val2421Ala) c.6563T>C (p.Val2188Ala) c.7310T>C (p.Val2437Ala) | |
| 16 | g.3727731A>T | CA394550081 | CREBBP | c.7316T>A (p.Val2439Glu) c.7202T>A (p.Val2401Glu) c.7271T>A (p.Val2424Glu) c.6899T>A (p.Val2300Glu) c.7055T>A (p.Val2352Glu) c.7262T>A (p.Val2421Glu) c.6563T>A (p.Val2188Glu) c.7310T>A (p.Val2437Glu) | |
| 16 | g.3727732C>A | CA394550082 | CREBBP | c.7315G>T (p.Val2439Leu) c.7201G>T (p.Val2401Leu) c.7270G>T (p.Val2424Leu) c.6898G>T (p.Val2300Leu) c.7054G>T (p.Val2352Leu) c.7261G>T (p.Val2421Leu) c.6562G>T (p.Val2188Leu) c.7309G>T (p.Val2437Leu) | gnomAD v4 |
| 16 | g.3727732C>G | CA394550083 | CREBBP | c.7315G>C (p.Val2439Leu) c.7201G>C (p.Val2401Leu) c.7270G>C (p.Val2424Leu) c.6898G>C (p.Val2300Leu) c.7054G>C (p.Val2352Leu) c.7261G>C (p.Val2421Leu) c.6562G>C (p.Val2188Leu) c.7309G>C (p.Val2437Leu) | |
| 16 | g.3727732C>T | CA394550084 | CREBBP | c.7315G>A (p.Val2439Met) c.7201G>A (p.Val2401Met) c.7270G>A (p.Val2424Met) c.6898G>A (p.Val2300Met) c.7054G>A (p.Val2352Met) c.7261G>A (p.Val2421Met) c.6562G>A (p.Val2188Met) c.7309G>A (p.Val2437Met) | dbSNP |
| 16 | g.3727733A= | CA2202928315 | CREBBP | c.7314T= (p.Phe2438=) c.7200T= (p.Phe2400=) c.7269T= (p.Phe2423=) c.6897T= (p.Phe2299=) c.7053T= (p.Phe2351=) c.7260T= (p.Phe2420=) c.6561T= (p.Phe2187=) c.7308T= (p.Phe2436=) | |
| 16 | g.3727733A>C | CA394550085 | CREBBP | c.7314T>G (p.Phe2438Leu) c.7200T>G (p.Phe2400Leu) c.7269T>G (p.Phe2423Leu) c.6897T>G (p.Phe2299Leu) c.7053T>G (p.Phe2351Leu) c.7260T>G (p.Phe2420Leu) c.6561T>G (p.Phe2187Leu) c.7308T>G (p.Phe2436Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727733A>G | CA493393021 | CREBBP | c.7314T>C (p.Phe2438=) c.7200T>C (p.Phe2400=) c.7269T>C (p.Phe2423=) c.6897T>C (p.Phe2299=) c.7053T>C (p.Phe2351=) c.7260T>C (p.Phe2420=) c.6561T>C (p.Phe2187=) c.7308T>C (p.Phe2436=) | ClinVar |
| 16 | g.3727733A>T | CA394550086 | CREBBP | c.7314T>A (p.Phe2438Leu) c.7200T>A (p.Phe2400Leu) c.7269T>A (p.Phe2423Leu) c.6897T>A (p.Phe2299Leu) c.7053T>A (p.Phe2351Leu) c.7260T>A (p.Phe2420Leu) c.6561T>A (p.Phe2187Leu) c.7308T>A (p.Phe2436Leu) | dbSNP |
| 16 | g.3727734A>C | CA394550087 | CREBBP | c.7313T>G (p.Phe2438Cys) c.7199T>G (p.Phe2400Cys) c.7268T>G (p.Phe2423Cys) c.6896T>G (p.Phe2299Cys) c.7052T>G (p.Phe2351Cys) c.7259T>G (p.Phe2420Cys) c.6560T>G (p.Phe2187Cys) c.7307T>G (p.Phe2436Cys) | |
| 16 | g.3727734A>G | CA394550088 | CREBBP | c.7313T>C (p.Phe2438Ser) c.7199T>C (p.Phe2400Ser) c.7268T>C (p.Phe2423Ser) c.6896T>C (p.Phe2299Ser) c.7052T>C (p.Phe2351Ser) c.7259T>C (p.Phe2420Ser) c.6560T>C (p.Phe2187Ser) c.7307T>C (p.Phe2436Ser) | |
| 16 | g.3727734A>T | CA394550089 | CREBBP | c.7313T>A (p.Phe2438Tyr) c.7199T>A (p.Phe2400Tyr) c.7268T>A (p.Phe2423Tyr) c.6896T>A (p.Phe2299Tyr) c.7052T>A (p.Phe2351Tyr) c.7259T>A (p.Phe2420Tyr) c.6560T>A (p.Phe2187Tyr) c.7307T>A (p.Phe2436Tyr) | dbSNP |
| 16 | g.3727735A>C | CA394550092 | CREBBP | c.7312T>G (p.Phe2438Val) c.7198T>G (p.Phe2400Val) c.7267T>G (p.Phe2423Val) c.6895T>G (p.Phe2299Val) c.7051T>G (p.Phe2351Val) c.7258T>G (p.Phe2420Val) c.6559T>G (p.Phe2187Val) c.7306T>G (p.Phe2436Val) | |
| 16 | g.3727735A>G | CA394550091 | CREBBP | c.7312T>C (p.Phe2438Leu) c.7198T>C (p.Phe2400Leu) c.7267T>C (p.Phe2423Leu) c.6895T>C (p.Phe2299Leu) c.7051T>C (p.Phe2351Leu) c.7258T>C (p.Phe2420Leu) c.6559T>C (p.Phe2187Leu) c.7306T>C (p.Phe2436Leu) | dbSNP |
| 16 | g.3727735A>T | CA394550090 | CREBBP | c.7312T>A (p.Phe2438Ile) c.7198T>A (p.Phe2400Ile) c.7267T>A (p.Phe2423Ile) c.6895T>A (p.Phe2299Ile) c.7051T>A (p.Phe2351Ile) c.7258T>A (p.Phe2420Ile) c.6559T>A (p.Phe2187Ile) c.7306T>A (p.Phe2436Ile) | dbSNP |
| 16 | g.3727736C>A | CA394550093 | CREBBP | c.7311G>T (p.Lys2437Asn) c.7197G>T (p.Lys2399Asn) c.7266G>T (p.Lys2422Asn) c.6894G>T (p.Lys2298Asn) c.7050G>T (p.Lys2350Asn) c.7257G>T (p.Lys2419Asn) c.6558G>T (p.Lys2186Asn) c.7305G>T (p.Lys2435Asn) | ClinVar dbSNP |
| 16 | g.3727736C= | CA2202928316 | CREBBP | c.7311G= (p.Lys2437=) c.7197G= (p.Lys2399=) c.7266G= (p.Lys2422=) c.6894G= (p.Lys2298=) c.7050G= (p.Lys2350=) c.7257G= (p.Lys2419=) c.6558G= (p.Lys2186=) c.7305G= (p.Lys2435=) | |
| 16 | g.3727736C>G | CA394550094 | CREBBP | c.7311G>C (p.Lys2437Asn) c.7197G>C (p.Lys2399Asn) c.7266G>C (p.Lys2422Asn) c.6894G>C (p.Lys2298Asn) c.7050G>C (p.Lys2350Asn) c.7257G>C (p.Lys2419Asn) c.6558G>C (p.Lys2186Asn) c.7305G>C (p.Lys2435Asn) | |
| 16 | g.3727736C>T | CA276970932 | CREBBP | c.7311G>A (p.Lys2437=) c.7197G>A (p.Lys2399=) c.7266G>A (p.Lys2422=) c.6894G>A (p.Lys2298=) c.7050G>A (p.Lys2350=) c.7257G>A (p.Lys2419=) c.6558G>A (p.Lys2186=) c.7305G>A (p.Lys2435=) | dbSNP gnomAD v4 |
| 16 | g.3727737T>A | CA394550095 | CREBBP | c.7310A>T (p.Lys2437Met) c.7196A>T (p.Lys2399Met) c.7265A>T (p.Lys2422Met) c.6893A>T (p.Lys2298Met) c.7049A>T (p.Lys2350Met) c.7256A>T (p.Lys2419Met) c.6557A>T (p.Lys2186Met) c.7304A>T (p.Lys2435Met) | dbSNP |
| 16 | g.3727737T>C | CA394550096 | CREBBP | c.7310A>G (p.Lys2437Arg) c.7196A>G (p.Lys2399Arg) c.7265A>G (p.Lys2422Arg) c.6893A>G (p.Lys2298Arg) c.7049A>G (p.Lys2350Arg) c.7256A>G (p.Lys2419Arg) c.6557A>G (p.Lys2186Arg) c.7304A>G (p.Lys2435Arg) | dbSNP |
| 16 | g.3727737T>G | CA394550097 | CREBBP | c.7310A>C (p.Lys2437Thr) c.7196A>C (p.Lys2399Thr) c.7265A>C (p.Lys2422Thr) c.6893A>C (p.Lys2298Thr) c.7049A>C (p.Lys2350Thr) c.7256A>C (p.Lys2419Thr) c.6557A>C (p.Lys2186Thr) c.7304A>C (p.Lys2435Thr) | |
| 16 | g.3727738T>A | CA394550098 | CREBBP | c.7309A>T (p.Lys2437Ter) c.7195A>T (p.Lys2399Ter) c.7264A>T (p.Lys2422Ter) c.6892A>T (p.Lys2298Ter) c.7048A>T (p.Lys2350Ter) c.7255A>T (p.Lys2419Ter) c.6556A>T (p.Lys2186Ter) c.7303A>T (p.Lys2435Ter) | |
| 16 | g.3727738T>C | CA394550099 | CREBBP | c.7309A>G (p.Lys2437Glu) c.7195A>G (p.Lys2399Glu) c.7264A>G (p.Lys2422Glu) c.6892A>G (p.Lys2298Glu) c.7048A>G (p.Lys2350Glu) c.7255A>G (p.Lys2419Glu) c.6556A>G (p.Lys2186Glu) c.7303A>G (p.Lys2435Glu) | |
| 16 | g.3727738T>G | CA394550100 | CREBBP | c.7309A>C (p.Lys2437Gln) c.7195A>C (p.Lys2399Gln) c.7264A>C (p.Lys2422Gln) c.6892A>C (p.Lys2298Gln) c.7048A>C (p.Lys2350Gln) c.7255A>C (p.Lys2419Gln) c.6556A>C (p.Lys2186Gln) c.7303A>C (p.Lys2435Gln) | |
| 16 | g.3727739C>A | CA394550101 | CREBBP | c.7308G>T (p.Glu2436Asp) c.7194G>T (p.Glu2398Asp) c.7263G>T (p.Glu2421Asp) c.6891G>T (p.Glu2297Asp) c.7047G>T (p.Glu2349Asp) c.7254G>T (p.Glu2418Asp) c.6555G>T (p.Glu2185Asp) c.7302G>T (p.Glu2434Asp) | dbSNP |
| 16 | g.3727739C= | CA2202928317 | CREBBP | c.7308G= (p.Glu2436=) c.7194G= (p.Glu2398=) c.7263G= (p.Glu2421=) c.6891G= (p.Glu2297=) c.7047G= (p.Glu2349=) c.7254G= (p.Glu2418=) c.6555G= (p.Glu2185=) c.7302G= (p.Glu2434=) | |
| 16 | g.3727739C>G | CA7868912 | CREBBP | c.7308G>C (p.Glu2436Asp) c.7194G>C (p.Glu2398Asp) c.7263G>C (p.Glu2421Asp) c.6891G>C (p.Glu2297Asp) c.7047G>C (p.Glu2349Asp) c.7254G>C (p.Glu2418Asp) c.6555G>C (p.Glu2185Asp) c.7302G>C (p.Glu2434Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727739C>T | CA493393040 | CREBBP | c.7308G>A (p.Glu2436=) c.7194G>A (p.Glu2398=) c.7263G>A (p.Glu2421=) c.6891G>A (p.Glu2297=) c.7047G>A (p.Glu2349=) c.7254G>A (p.Glu2418=) c.6555G>A (p.Glu2185=) c.7302G>A (p.Glu2434=) | |
| 16 | g.3727740T>A | CA394550102 | CREBBP | c.7307A>T (p.Glu2436Val) c.7193A>T (p.Glu2398Val) c.7262A>T (p.Glu2421Val) c.6890A>T (p.Glu2297Val) c.7046A>T (p.Glu2349Val) c.7253A>T (p.Glu2418Val) c.6554A>T (p.Glu2185Val) c.7301A>T (p.Glu2434Val) | |
| 16 | g.3727740T>C | CA394550103 | CREBBP | c.7307A>G (p.Glu2436Gly) c.7193A>G (p.Glu2398Gly) c.7262A>G (p.Glu2421Gly) c.6890A>G (p.Glu2297Gly) c.7046A>G (p.Glu2349Gly) c.7253A>G (p.Glu2418Gly) c.6554A>G (p.Glu2185Gly) c.7301A>G (p.Glu2434Gly) | dbSNP |
| 16 | g.3727740T>G | CA394550104 | CREBBP | c.7307A>C (p.Glu2436Ala) c.7193A>C (p.Glu2398Ala) c.7262A>C (p.Glu2421Ala) c.6890A>C (p.Glu2297Ala) c.7046A>C (p.Glu2349Ala) c.7253A>C (p.Glu2418Ala) c.6554A>C (p.Glu2185Ala) c.7301A>C (p.Glu2434Ala) | |
| 16 | g.3727741C>A | CA394550106 | CREBBP | c.7306G>T (p.Glu2436Ter) c.7192G>T (p.Glu2398Ter) c.7261G>T (p.Glu2421Ter) c.6889G>T (p.Glu2297Ter) c.7045G>T (p.Glu2349Ter) c.7252G>T (p.Glu2418Ter) c.6553G>T (p.Glu2185Ter) c.7300G>T (p.Glu2434Ter) | dbSNP |
| 16 | g.3727741C>G | CA394550107 | CREBBP | c.7306G>C (p.Glu2436Gln) c.7192G>C (p.Glu2398Gln) c.7261G>C (p.Glu2421Gln) c.6889G>C (p.Glu2297Gln) c.7045G>C (p.Glu2349Gln) c.7252G>C (p.Glu2418Gln) c.6553G>C (p.Glu2185Gln) c.7300G>C (p.Glu2434Gln) | |
| 16 | g.3727741C>T | CA394550105 | CREBBP | c.7306G>A (p.Glu2436Lys) c.7192G>A (p.Glu2398Lys) c.7261G>A (p.Glu2421Lys) c.6889G>A (p.Glu2297Lys) c.7045G>A (p.Glu2349Lys) c.7252G>A (p.Glu2418Lys) c.6553G>A (p.Glu2185Lys) c.7300G>A (p.Glu2434Lys) | dbSNP |
| 16 | g.3727742T>A | CA493393043 | CREBBP | c.7305A>T (p.Leu2435=) c.7191A>T (p.Leu2397=) c.7260A>T (p.Leu2420=) c.6888A>T (p.Leu2296=) c.7044A>T (p.Leu2348=) c.7251A>T (p.Leu2417=) c.6552A>T (p.Leu2184=) c.7299A>T (p.Leu2433=) | |
| 16 | g.3727742T>C | CA7868913 | CREBBP | c.7305A>G (p.Leu2435=) c.7191A>G (p.Leu2397=) c.7260A>G (p.Leu2420=) c.6888A>G (p.Leu2296=) c.7044A>G (p.Leu2348=) c.7251A>G (p.Leu2417=) c.6552A>G (p.Leu2184=) c.7299A>G (p.Leu2433=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727742T>G | CA493393046 | CREBBP | c.7305A>C (p.Leu2435=) c.7191A>C (p.Leu2397=) c.7260A>C (p.Leu2420=) c.6888A>C (p.Leu2296=) c.7044A>C (p.Leu2348=) c.7251A>C (p.Leu2417=) c.6552A>C (p.Leu2184=) c.7299A>C (p.Leu2433=) | gnomAD v4 |
| 16 | g.3727742T= | CA2202928318 | CREBBP | c.7305A= (p.Leu2435=) c.7191A= (p.Leu2397=) c.7260A= (p.Leu2420=) c.6888A= (p.Leu2296=) c.7044A= (p.Leu2348=) c.7251A= (p.Leu2417=) c.6552A= (p.Leu2184=) c.7299A= (p.Leu2433=) | |
| 16 | g.3727743A>C | CA394550108 | CREBBP | c.7304T>G (p.Leu2435Arg) c.7190T>G (p.Leu2397Arg) c.7259T>G (p.Leu2420Arg) c.6887T>G (p.Leu2296Arg) c.7043T>G (p.Leu2348Arg) c.7250T>G (p.Leu2417Arg) c.6551T>G (p.Leu2184Arg) c.7298T>G (p.Leu2433Arg) | |
| 16 | g.3727743A>G | CA394550109 | CREBBP | c.7304T>C (p.Leu2435Pro) c.7190T>C (p.Leu2397Pro) c.7259T>C (p.Leu2420Pro) c.6887T>C (p.Leu2296Pro) c.7043T>C (p.Leu2348Pro) c.7250T>C (p.Leu2417Pro) c.6551T>C (p.Leu2184Pro) c.7298T>C (p.Leu2433Pro) | |
| 16 | g.3727743A>T | CA394550110 | CREBBP | c.7304T>A (p.Leu2435Gln) c.7190T>A (p.Leu2397Gln) c.7259T>A (p.Leu2420Gln) c.6887T>A (p.Leu2296Gln) c.7043T>A (p.Leu2348Gln) c.7250T>A (p.Leu2417Gln) c.6551T>A (p.Leu2184Gln) c.7298T>A (p.Leu2433Gln) | dbSNP |
| 16 | g.3727744G>A | CA493393050 | CREBBP | c.7303C>T (p.Leu2435=) c.7189C>T (p.Leu2397=) c.7258C>T (p.Leu2420=) c.6886C>T (p.Leu2296=) c.7042C>T (p.Leu2348=) c.7249C>T (p.Leu2417=) c.6550C>T (p.Leu2184=) c.7297C>T (p.Leu2433=) | dbSNP |
| 16 | g.3727744G>C | CA394550111 | CREBBP | c.7303C>G (p.Leu2435Val) c.7189C>G (p.Leu2397Val) c.7258C>G (p.Leu2420Val) c.6886C>G (p.Leu2296Val) c.7042C>G (p.Leu2348Val) c.7249C>G (p.Leu2417Val) c.6550C>G (p.Leu2184Val) c.7297C>G (p.Leu2433Val) | dbSNP gnomAD v4 |
| 16 | g.3727744G>T | CA394550112 | CREBBP | c.7303C>A (p.Leu2435Ile) c.7189C>A (p.Leu2397Ile) c.7258C>A (p.Leu2420Ile) c.6886C>A (p.Leu2296Ile) c.7042C>A (p.Leu2348Ile) c.7249C>A (p.Leu2417Ile) c.6550C>A (p.Leu2184Ile) c.7297C>A (p.Leu2433Ile) | gnomAD v4 |
| 16 | g.3727745C>A | CA493393051 | CREBBP | c.7302G>T (p.Thr2434=) c.7188G>T (p.Thr2396=) c.7257G>T (p.Thr2419=) c.6885G>T (p.Thr2295=) c.7041G>T (p.Thr2347=) c.7248G>T (p.Thr2416=) c.6549G>T (p.Thr2183=) c.7296G>T (p.Thr2432=) | dbSNP |
| 16 | g.3727745C= | CA2202928319 | CREBBP | c.7302G= (p.Thr2434=) c.7188G= (p.Thr2396=) c.7257G= (p.Thr2419=) c.6885G= (p.Thr2295=) c.7041G= (p.Thr2347=) c.7248G= (p.Thr2416=) c.6549G= (p.Thr2183=) c.7296G= (p.Thr2432=) | |
| 16 | g.3727745C>G | CA493393052 | CREBBP | c.7302G>C (p.Thr2434=) c.7188G>C (p.Thr2396=) c.7257G>C (p.Thr2419=) c.6885G>C (p.Thr2295=) c.7041G>C (p.Thr2347=) c.7248G>C (p.Thr2416=) c.6549G>C (p.Thr2183=) c.7296G>C (p.Thr2432=) | |
| 16 | g.3727745C>T | CA179936 | CREBBP | c.7302G>A (p.Thr2434=) c.7188G>A (p.Thr2396=) c.7257G>A (p.Thr2419=) c.6885G>A (p.Thr2295=) c.7041G>A (p.Thr2347=) c.7248G>A (p.Thr2416=) c.6549G>A (p.Thr2183=) c.7296G>A (p.Thr2432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3727746G>A | CA7868914 | CREBBP | c.7301C>T (p.Thr2434Met) c.7187C>T (p.Thr2396Met) c.7256C>T (p.Thr2419Met) c.6884C>T (p.Thr2295Met) c.7040C>T (p.Thr2347Met) c.7247C>T (p.Thr2416Met) c.6548C>T (p.Thr2183Met) c.7295C>T (p.Thr2432Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727746G>C | CA394550113 | CREBBP | c.7301C>G (p.Thr2434Arg) c.7187C>G (p.Thr2396Arg) c.7256C>G (p.Thr2419Arg) c.6884C>G (p.Thr2295Arg) c.7040C>G (p.Thr2347Arg) c.7247C>G (p.Thr2416Arg) c.6548C>G (p.Thr2183Arg) c.7295C>G (p.Thr2432Arg) | dbSNP gnomAD v4 |
| 16 | g.3727746G= | CA2202928320 | CREBBP | c.7301C= (p.Thr2434=) c.7187C= (p.Thr2396=) c.7256C= (p.Thr2419=) c.6884C= (p.Thr2295=) c.7040C= (p.Thr2347=) c.7247C= (p.Thr2416=) c.6548C= (p.Thr2183=) c.7295C= (p.Thr2432=) | |
| 16 | g.3727746G>T | CA394550114 | CREBBP | c.7301C>A (p.Thr2434Lys) c.7187C>A (p.Thr2396Lys) c.7256C>A (p.Thr2419Lys) c.6884C>A (p.Thr2295Lys) c.7040C>A (p.Thr2347Lys) c.7247C>A (p.Thr2416Lys) c.6548C>A (p.Thr2183Lys) c.7295C>A (p.Thr2432Lys) | dbSNP |
| 16 | g.3727754_3727765dup | CA2590182461 | CREBBP | c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr) c.7176_7187dup (p.Thr2396_Leu2397insThrGlyAspThr) c.7245_7256dup (p.Thr2419_Leu2420insThrGlyAspThr) c.6873_6884dup (p.Thr2295_Leu2296insThrGlyAspThr) c.7029_7040dup (p.Thr2347_Leu2348insThrGlyAspThr) c.7236_7247dup (p.Thr2416_Leu2417insThrGlyAspThr) c.6537_6548dup (p.Thr2183_Leu2184insThrGlyAspThr) c.7284_7295dup (p.Thr2432_Leu2433insThrGlyAspThr) | ClinVar gnomAD v3 gnomAD v4 |
| 16 | g.3727754_3727765del | CA2631401172 | CREBBP | c.7290_7301del (p.Thr2431_Thr2434del) c.7176_7187del (p.Thr2393_Thr2396del) c.7245_7256del (p.Thr2416_Thr2419del) c.6873_6884del (p.Thr2292_Thr2295del) c.7029_7040del (p.Thr2344_Thr2347del) c.7236_7247del (p.Thr2413_Thr2416del) c.6537_6548del (p.Thr2180_Thr2183del) c.7284_7295del (p.Thr2429_Thr2432del) | gnomAD v4 |
| 16 | g.3727747T>A | CA394550115 | CREBBP | c.7300A>T (p.Thr2434Ser) c.7186A>T (p.Thr2396Ser) c.7255A>T (p.Thr2419Ser) c.6883A>T (p.Thr2295Ser) c.7039A>T (p.Thr2347Ser) c.7246A>T (p.Thr2416Ser) c.6547A>T (p.Thr2183Ser) c.7294A>T (p.Thr2432Ser) | dbSNP |
| 16 | g.3727747T>C | CA394550116 | CREBBP | c.7300A>G (p.Thr2434Ala) c.7186A>G (p.Thr2396Ala) c.7255A>G (p.Thr2419Ala) c.6883A>G (p.Thr2295Ala) c.7039A>G (p.Thr2347Ala) c.7246A>G (p.Thr2416Ala) c.6547A>G (p.Thr2183Ala) c.7294A>G (p.Thr2432Ala) | ClinVar |
| 16 | g.3727747T>G | CA394550117 | CREBBP | c.7300A>C (p.Thr2434Pro) c.7186A>C (p.Thr2396Pro) c.7255A>C (p.Thr2419Pro) c.6883A>C (p.Thr2295Pro) c.7039A>C (p.Thr2347Pro) c.7246A>C (p.Thr2416Pro) c.6547A>C (p.Thr2183Pro) c.7294A>C (p.Thr2432Pro) | |
| 16 | g.3727748G>A | CA493393056 | CREBBP | c.7299C>T (p.Asp2433=) c.7185C>T (p.Asp2395=) c.7254C>T (p.Asp2418=) c.6882C>T (p.Asp2294=) c.7038C>T (p.Asp2346=) c.7245C>T (p.Asp2415=) c.6546C>T (p.Asp2182=) c.7293C>T (p.Asp2431=) | |
| 16 | g.3727748G>C | CA394550119 | CREBBP | c.7299C>G (p.Asp2433Glu) c.7185C>G (p.Asp2395Glu) c.7254C>G (p.Asp2418Glu) c.6882C>G (p.Asp2294Glu) c.7038C>G (p.Asp2346Glu) c.7245C>G (p.Asp2415Glu) c.6546C>G (p.Asp2182Glu) c.7293C>G (p.Asp2431Glu) | dbSNP |
| 16 | g.3727748G>T | CA394550118 | CREBBP | c.7299C>A (p.Asp2433Glu) c.7185C>A (p.Asp2395Glu) c.7254C>A (p.Asp2418Glu) c.6882C>A (p.Asp2294Glu) c.7038C>A (p.Asp2346Glu) c.7245C>A (p.Asp2415Glu) c.6546C>A (p.Asp2182Glu) c.7293C>A (p.Asp2431Glu) | dbSNP |
| 16 | g.3727749T>A | CA394550120 | CREBBP | c.7298A>T (p.Asp2433Val) c.7184A>T (p.Asp2395Val) c.7253A>T (p.Asp2418Val) c.6881A>T (p.Asp2294Val) c.7037A>T (p.Asp2346Val) c.7244A>T (p.Asp2415Val) c.6545A>T (p.Asp2182Val) c.7292A>T (p.Asp2431Val) | |
| 16 | g.3727749T>C | CA394550121 | CREBBP | c.7298A>G (p.Asp2433Gly) c.7184A>G (p.Asp2395Gly) c.7253A>G (p.Asp2418Gly) c.6881A>G (p.Asp2294Gly) c.7037A>G (p.Asp2346Gly) c.7244A>G (p.Asp2415Gly) c.6545A>G (p.Asp2182Gly) c.7292A>G (p.Asp2431Gly) | gnomAD v4 |
| 16 | g.3727749T>G | CA394550122 | CREBBP | c.7298A>C (p.Asp2433Ala) c.7184A>C (p.Asp2395Ala) c.7253A>C (p.Asp2418Ala) c.6881A>C (p.Asp2294Ala) c.7037A>C (p.Asp2346Ala) c.7244A>C (p.Asp2415Ala) c.6545A>C (p.Asp2182Ala) c.7292A>C (p.Asp2431Ala) | |
| 16 | g.3727750C>A | CA394550123 | CREBBP | c.7297G>T (p.Asp2433Tyr) c.7183G>T (p.Asp2395Tyr) c.7252G>T (p.Asp2418Tyr) c.6880G>T (p.Asp2294Tyr) c.7036G>T (p.Asp2346Tyr) c.7243G>T (p.Asp2415Tyr) c.6544G>T (p.Asp2182Tyr) c.7291G>T (p.Asp2431Tyr) | |
| 16 | g.3727750C>G | CA394550124 | CREBBP | c.7297G>C (p.Asp2433His) c.7183G>C (p.Asp2395His) c.7252G>C (p.Asp2418His) c.6880G>C (p.Asp2294His) c.7036G>C (p.Asp2346His) c.7243G>C (p.Asp2415His) c.6544G>C (p.Asp2182His) c.7291G>C (p.Asp2431His) | dbSNP |
| 16 | g.3727750C>T | CA394550125 | CREBBP | c.7297G>A (p.Asp2433Asn) c.7183G>A (p.Asp2395Asn) c.7252G>A (p.Asp2418Asn) c.6880G>A (p.Asp2294Asn) c.7036G>A (p.Asp2346Asn) c.7243G>A (p.Asp2415Asn) c.6544G>A (p.Asp2182Asn) c.7291G>A (p.Asp2431Asn) | dbSNP gnomAD v4 |
| 16 | g.3727752_3727754dup | CA2631401173 | CREBBP | c.7295_7297dup (p.Gly2432_Asp2433insGly) c.7181_7183dup (p.Gly2394_Asp2395insGly) c.7250_7252dup (p.Gly2417_Asp2418insGly) c.6878_6880dup (p.Gly2293_Asp2294insGly) c.7034_7036dup (p.Gly2345_Asp2346insGly) c.7241_7243dup (p.Gly2414_Asp2415insGly) c.6542_6544dup (p.Gly2181_Asp2182insGly) c.7289_7291dup (p.Gly2430_Asp2431insGly) | gnomAD v4 |
| 16 | g.3727754del | CA2731837511 | CREBBP | c.7297del (p.Asp2433ThrfsTer3) c.7183del (p.Asp2395ThrfsTer3) c.7252del (p.Asp2418ThrfsTer3) c.6880del (p.Asp2294ThrfsTer3) c.7036del (p.Asp2346ThrfsTer3) c.7243del (p.Asp2415ThrfsTer3) c.6544del (p.Asp2182ThrfsTer3) c.7291del (p.Asp2431ThrfsTer3) | dbSNP |
| 16 | g.3727751C>A | CA493393058 | CREBBP | c.7296G>T (p.Gly2432=) c.7182G>T (p.Gly2394=) c.7251G>T (p.Gly2417=) c.6879G>T (p.Gly2293=) c.7035G>T (p.Gly2345=) c.7242G>T (p.Gly2414=) c.6543G>T (p.Gly2181=) c.7290G>T (p.Gly2430=) | dbSNP |
| 16 | g.3727751C>G | CA493393059 | CREBBP | c.7296G>C (p.Gly2432=) c.7182G>C (p.Gly2394=) c.7251G>C (p.Gly2417=) c.6879G>C (p.Gly2293=) c.7035G>C (p.Gly2345=) c.7242G>C (p.Gly2414=) c.6543G>C (p.Gly2181=) c.7290G>C (p.Gly2430=) | |
| 16 | g.3727751C>T | CA493393060 | CREBBP | c.7296G>A (p.Gly2432=) c.7182G>A (p.Gly2394=) c.7251G>A (p.Gly2417=) c.6879G>A (p.Gly2293=) c.7035G>A (p.Gly2345=) c.7242G>A (p.Gly2414=) c.6543G>A (p.Gly2181=) c.7290G>A (p.Gly2430=) | dbSNP |
| 16 | g.3727752C>A | CA394550126 | CREBBP | c.7295G>T (p.Gly2432Val) c.7181G>T (p.Gly2394Val) c.7250G>T (p.Gly2417Val) c.6878G>T (p.Gly2293Val) c.7034G>T (p.Gly2345Val) c.7241G>T (p.Gly2414Val) c.6542G>T (p.Gly2181Val) c.7289G>T (p.Gly2430Val) | gnomAD v4 |
| 16 | g.3727752C= | CA2202928321 | CREBBP | c.7295G= (p.Gly2432=) c.7181G= (p.Gly2394=) c.7250G= (p.Gly2417=) c.6878G= (p.Gly2293=) c.7034G= (p.Gly2345=) c.7241G= (p.Gly2414=) c.6542G= (p.Gly2181=) c.7289G= (p.Gly2430=) | |
| 16 | g.3727752C>G | CA394550127 | CREBBP | c.7295G>C (p.Gly2432Ala) c.7181G>C (p.Gly2394Ala) c.7250G>C (p.Gly2417Ala) c.6878G>C (p.Gly2293Ala) c.7034G>C (p.Gly2345Ala) c.7241G>C (p.Gly2414Ala) c.6542G>C (p.Gly2181Ala) c.7289G>C (p.Gly2430Ala) | dbSNP |
| 16 | g.3727752C>T | CA394550128 | CREBBP | c.7295G>A (p.Gly2432Glu) c.7181G>A (p.Gly2394Glu) c.7250G>A (p.Gly2417Glu) c.6878G>A (p.Gly2293Glu) c.7034G>A (p.Gly2345Glu) c.7241G>A (p.Gly2414Glu) c.6542G>A (p.Gly2181Glu) c.7289G>A (p.Gly2430Glu) | dbSNP gnomAD v2 |
| 16 | g.3727753C>A | CA394550129 | CREBBP | c.7294G>T (p.Gly2432Trp) c.7180G>T (p.Gly2394Trp) c.7249G>T (p.Gly2417Trp) c.6877G>T (p.Gly2293Trp) c.7033G>T (p.Gly2345Trp) c.7240G>T (p.Gly2414Trp) c.6541G>T (p.Gly2181Trp) c.7288G>T (p.Gly2430Trp) | dbSNP |
| 16 | g.3727753C>G | CA394550130 | CREBBP | c.7294G>C (p.Gly2432Arg) c.7180G>C (p.Gly2394Arg) c.7249G>C (p.Gly2417Arg) c.6877G>C (p.Gly2293Arg) c.7033G>C (p.Gly2345Arg) c.7240G>C (p.Gly2414Arg) c.6541G>C (p.Gly2181Arg) c.7288G>C (p.Gly2430Arg) | |
| 16 | g.3727753C>T | CA394550131 | CREBBP | c.7294G>A (p.Gly2432Arg) c.7180G>A (p.Gly2394Arg) c.7249G>A (p.Gly2417Arg) c.6877G>A (p.Gly2293Arg) c.7033G>A (p.Gly2345Arg) c.7240G>A (p.Gly2414Arg) c.6541G>A (p.Gly2181Arg) c.7288G>A (p.Gly2430Arg) | dbSNP |
| 16 | g.3727754C>A | CA493393064 | CREBBP | c.7293G>T (p.Thr2431=) c.7179G>T (p.Thr2393=) c.7248G>T (p.Thr2416=) c.6876G>T (p.Thr2292=) c.7032G>T (p.Thr2344=) c.7239G>T (p.Thr2413=) c.6540G>T (p.Thr2180=) c.7287G>T (p.Thr2429=) | |
| 16 | g.3727754C= | CA2202928322 | CREBBP | c.7293G= (p.Thr2431=) c.7179G= (p.Thr2393=) c.7248G= (p.Thr2416=) c.6876G= (p.Thr2292=) c.7032G= (p.Thr2344=) c.7239G= (p.Thr2413=) c.6540G= (p.Thr2180=) c.7287G= (p.Thr2429=) | |
| 16 | g.3727754C>G | CA493393063 | CREBBP | c.7293G>C (p.Thr2431=) c.7179G>C (p.Thr2393=) c.7248G>C (p.Thr2416=) c.6876G>C (p.Thr2292=) c.7032G>C (p.Thr2344=) c.7239G>C (p.Thr2413=) c.6540G>C (p.Thr2180=) c.7287G>C (p.Thr2429=) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727754C>T | CA171810 | CREBBP | c.7293G>A (p.Thr2431=) c.7179G>A (p.Thr2393=) c.7248G>A (p.Thr2416=) c.6876G>A (p.Thr2292=) c.7032G>A (p.Thr2344=) c.7239G>A (p.Thr2413=) c.6540G>A (p.Thr2180=) c.7287G>A (p.Thr2429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727755G>A | CA7868915 | CREBBP | c.7292C>T (p.Thr2431Met) c.7178C>T (p.Thr2393Met) c.7247C>T (p.Thr2416Met) c.6875C>T (p.Thr2292Met) c.7031C>T (p.Thr2344Met) c.7238C>T (p.Thr2413Met) c.6539C>T (p.Thr2180Met) c.7286C>T (p.Thr2429Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727755G>C | CA394550133 | CREBBP | c.7292C>G (p.Thr2431Arg) c.7178C>G (p.Thr2393Arg) c.7247C>G (p.Thr2416Arg) c.6875C>G (p.Thr2292Arg) c.7031C>G (p.Thr2344Arg) c.7238C>G (p.Thr2413Arg) c.6539C>G (p.Thr2180Arg) c.7286C>G (p.Thr2429Arg) | dbSNP |
| 16 | g.3727755G= | CA2202928323 | CREBBP | c.7292C= (p.Thr2431=) c.7178C= (p.Thr2393=) c.7247C= (p.Thr2416=) c.6875C= (p.Thr2292=) c.7031C= (p.Thr2344=) c.7238C= (p.Thr2413=) c.6539C= (p.Thr2180=) c.7286C= (p.Thr2429=) | |
| 16 | g.3727755G>T | CA394550132 | CREBBP | c.7292C>A (p.Thr2431Lys) c.7178C>A (p.Thr2393Lys) c.7247C>A (p.Thr2416Lys) c.6875C>A (p.Thr2292Lys) c.7031C>A (p.Thr2344Lys) c.7238C>A (p.Thr2413Lys) c.6539C>A (p.Thr2180Lys) c.7286C>A (p.Thr2429Lys) | |
| 16 | g.3727756T>A | CA394550134 | CREBBP | c.7291A>T (p.Thr2431Ser) c.7177A>T (p.Thr2393Ser) c.7246A>T (p.Thr2416Ser) c.6874A>T (p.Thr2292Ser) c.7030A>T (p.Thr2344Ser) c.7237A>T (p.Thr2413Ser) c.6538A>T (p.Thr2180Ser) c.7285A>T (p.Thr2429Ser) | |
| 16 | g.3727756T>C | CA7868916 | CREBBP | c.7291A>G (p.Thr2431Ala) c.7177A>G (p.Thr2393Ala) c.7246A>G (p.Thr2416Ala) c.6874A>G (p.Thr2292Ala) c.7030A>G (p.Thr2344Ala) c.7237A>G (p.Thr2413Ala) c.6538A>G (p.Thr2180Ala) c.7285A>G (p.Thr2429Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727756T>G | CA394550135 | CREBBP | c.7291A>C (p.Thr2431Pro) c.7177A>C (p.Thr2393Pro) c.7246A>C (p.Thr2416Pro) c.6874A>C (p.Thr2292Pro) c.7030A>C (p.Thr2344Pro) c.7237A>C (p.Thr2413Pro) c.6538A>C (p.Thr2180Pro) c.7285A>C (p.Thr2429Pro) | dbSNP |
| 16 | g.3727756T= | CA2202928324 | CREBBP | c.7291A= (p.Thr2431=) c.7177A= (p.Thr2393=) c.7246A= (p.Thr2416=) c.6874A= (p.Thr2292=) c.7030A= (p.Thr2344=) c.7237A= (p.Thr2413=) c.6538A= (p.Thr2180=) c.7285A= (p.Thr2429=) | |
| 16 | g.3727757G>A | CA493393066 | CREBBP | c.7290C>T (p.Thr2430=) c.7176C>T (p.Thr2392=) c.7245C>T (p.Thr2415=) c.6873C>T (p.Thr2291=) c.7029C>T (p.Thr2343=) c.7236C>T (p.Thr2412=) c.6537C>T (p.Thr2179=) c.7284C>T (p.Thr2428=) | dbSNP gnomAD v4 |
| 16 | g.3727757G>C | CA493393067 | CREBBP | c.7290C>G (p.Thr2430=) c.7176C>G (p.Thr2392=) c.7245C>G (p.Thr2415=) c.6873C>G (p.Thr2291=) c.7029C>G (p.Thr2343=) c.7236C>G (p.Thr2412=) c.6537C>G (p.Thr2179=) c.7284C>G (p.Thr2428=) | dbSNP |
| 16 | g.3727757G= | CA2202928325 | CREBBP | c.7290C= (p.Thr2430=) c.7176C= (p.Thr2392=) c.7245C= (p.Thr2415=) c.6873C= (p.Thr2291=) c.7029C= (p.Thr2343=) c.7236C= (p.Thr2412=) c.6537C= (p.Thr2179=) c.7284C= (p.Thr2428=) | |
| 16 | g.3727757G>T | CA493393068 | CREBBP | c.7290C>A (p.Thr2430=) c.7176C>A (p.Thr2392=) c.7245C>A (p.Thr2415=) c.6873C>A (p.Thr2291=) c.7029C>A (p.Thr2343=) c.7236C>A (p.Thr2412=) c.6537C>A (p.Thr2179=) c.7284C>A (p.Thr2428=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3727758G>A | CA394550136 | CREBBP | c.7289C>T (p.Thr2430Ile) c.7175C>T (p.Thr2392Ile) c.7244C>T (p.Thr2415Ile) c.6872C>T (p.Thr2291Ile) c.7028C>T (p.Thr2343Ile) c.7235C>T (p.Thr2412Ile) c.6536C>T (p.Thr2179Ile) c.7283C>T (p.Thr2428Ile) | dbSNP |
| 16 | g.3727758G>C | CA394550137 | CREBBP | c.7289C>G (p.Thr2430Ser) c.7175C>G (p.Thr2392Ser) c.7244C>G (p.Thr2415Ser) c.6872C>G (p.Thr2291Ser) c.7028C>G (p.Thr2343Ser) c.7235C>G (p.Thr2412Ser) c.6536C>G (p.Thr2179Ser) c.7283C>G (p.Thr2428Ser) | dbSNP |
| 16 | g.3727758G>T | CA394550138 | CREBBP | c.7289C>A (p.Thr2430Asn) c.7175C>A (p.Thr2392Asn) c.7244C>A (p.Thr2415Asn) c.6872C>A (p.Thr2291Asn) c.7028C>A (p.Thr2343Asn) c.7235C>A (p.Thr2412Asn) c.6536C>A (p.Thr2179Asn) c.7283C>A (p.Thr2428Asn) | dbSNP |
| 16 | g.3727759T>A | CA394550139 | CREBBP | c.7288A>T (p.Thr2430Ser) c.7174A>T (p.Thr2392Ser) c.7243A>T (p.Thr2415Ser) c.6871A>T (p.Thr2291Ser) c.7027A>T (p.Thr2343Ser) c.7234A>T (p.Thr2412Ser) c.6535A>T (p.Thr2179Ser) c.7282A>T (p.Thr2428Ser) | dbSNP |
| 16 | g.3727759T>C | CA394550140 | CREBBP | c.7288A>G (p.Thr2430Ala) c.7174A>G (p.Thr2392Ala) c.7243A>G (p.Thr2415Ala) c.6871A>G (p.Thr2291Ala) c.7027A>G (p.Thr2343Ala) c.7234A>G (p.Thr2412Ala) c.6535A>G (p.Thr2179Ala) c.7282A>G (p.Thr2428Ala) | |
| 16 | g.3727759T>G | CA394550141 | CREBBP | c.7288A>C (p.Thr2430Pro) c.7174A>C (p.Thr2392Pro) c.7243A>C (p.Thr2415Pro) c.6871A>C (p.Thr2291Pro) c.7027A>C (p.Thr2343Pro) c.7234A>C (p.Thr2412Pro) c.6535A>C (p.Thr2179Pro) c.7282A>C (p.Thr2428Pro) | dbSNP |
| 16 | g.3727760G>A | CA493393073 | CREBBP | c.7287C>T (p.Asp2429=) c.7173C>T (p.Asp2391=) c.7242C>T (p.Asp2414=) c.6870C>T (p.Asp2290=) c.7026C>T (p.Asp2342=) c.7233C>T (p.Asp2411=) c.6534C>T (p.Asp2178=) c.7281C>T (p.Asp2427=) | dbSNP |
| 16 | g.3727760G>C | CA394550142 | CREBBP | c.7287C>G (p.Asp2429Glu) c.7173C>G (p.Asp2391Glu) c.7242C>G (p.Asp2414Glu) c.6870C>G (p.Asp2290Glu) c.7026C>G (p.Asp2342Glu) c.7233C>G (p.Asp2411Glu) c.6534C>G (p.Asp2178Glu) c.7281C>G (p.Asp2427Glu) | dbSNP |
| 16 | g.3727760G>T | CA394550143 | CREBBP | c.7287C>A (p.Asp2429Glu) c.7173C>A (p.Asp2391Glu) c.7242C>A (p.Asp2414Glu) c.6870C>A (p.Asp2290Glu) c.7026C>A (p.Asp2342Glu) c.7233C>A (p.Asp2411Glu) c.6534C>A (p.Asp2178Glu) c.7281C>A (p.Asp2427Glu) | |
| 16 | g.3727761T>A | CA394550144 | CREBBP | c.7286A>T (p.Asp2429Val) c.7172A>T (p.Asp2391Val) c.7241A>T (p.Asp2414Val) c.6869A>T (p.Asp2290Val) c.7025A>T (p.Asp2342Val) c.7232A>T (p.Asp2411Val) c.6533A>T (p.Asp2178Val) c.7280A>T (p.Asp2427Val) | |
| 16 | g.3727761T>C | CA394550145 | CREBBP | c.7286A>G (p.Asp2429Gly) c.7172A>G (p.Asp2391Gly) c.7241A>G (p.Asp2414Gly) c.6869A>G (p.Asp2290Gly) c.7025A>G (p.Asp2342Gly) c.7232A>G (p.Asp2411Gly) c.6533A>G (p.Asp2178Gly) c.7280A>G (p.Asp2427Gly) | |
| 16 | g.3727761T>G | CA394550146 | CREBBP | c.7286A>C (p.Asp2429Ala) c.7172A>C (p.Asp2391Ala) c.7241A>C (p.Asp2414Ala) c.6869A>C (p.Asp2290Ala) c.7025A>C (p.Asp2342Ala) c.7232A>C (p.Asp2411Ala) c.6533A>C (p.Asp2178Ala) c.7280A>C (p.Asp2427Ala) | |
| 16 | g.3727762C>A | CA394550149 | CREBBP | c.7285G>T (p.Asp2429Tyr) c.7171G>T (p.Asp2391Tyr) c.7240G>T (p.Asp2414Tyr) c.6868G>T (p.Asp2290Tyr) c.7024G>T (p.Asp2342Tyr) c.7231G>T (p.Asp2411Tyr) c.6532G>T (p.Asp2178Tyr) c.7279G>T (p.Asp2427Tyr) | dbSNP COSMIC |
| 16 | g.3727762C>G | CA394550148 | CREBBP | c.7285G>C (p.Asp2429His) c.7171G>C (p.Asp2391His) c.7240G>C (p.Asp2414His) c.6868G>C (p.Asp2290His) c.7024G>C (p.Asp2342His) c.7231G>C (p.Asp2411His) c.6532G>C (p.Asp2178His) c.7279G>C (p.Asp2427His) | dbSNP |
| 16 | g.3727762C>T | CA394550147 | CREBBP | c.7285G>A (p.Asp2429Asn) c.7171G>A (p.Asp2391Asn) c.7240G>A (p.Asp2414Asn) c.6868G>A (p.Asp2290Asn) c.7024G>A (p.Asp2342Asn) c.7231G>A (p.Asp2411Asn) c.6532G>A (p.Asp2178Asn) c.7279G>A (p.Asp2427Asn) | dbSNP COSMIC |
| 16 | g.3727763C>A | CA493393075 | CREBBP | c.7284G>T (p.Gly2428=) c.7170G>T (p.Gly2390=) c.7239G>T (p.Gly2413=) c.6867G>T (p.Gly2289=) c.7023G>T (p.Gly2341=) c.7230G>T (p.Gly2410=) c.6531G>T (p.Gly2177=) c.7278G>T (p.Gly2426=) | dbSNP |
| 16 | g.3727763C>G | CA493393076 | CREBBP | c.7284G>C (p.Gly2428=) c.7170G>C (p.Gly2390=) c.7239G>C (p.Gly2413=) c.6867G>C (p.Gly2289=) c.7023G>C (p.Gly2341=) c.7230G>C (p.Gly2410=) c.6531G>C (p.Gly2177=) c.7278G>C (p.Gly2426=) | |
| 16 | g.3727763C>T | CA493393077 | CREBBP | c.7284G>A (p.Gly2428=) c.7170G>A (p.Gly2390=) c.7239G>A (p.Gly2413=) c.6867G>A (p.Gly2289=) c.7023G>A (p.Gly2341=) c.7230G>A (p.Gly2410=) c.6531G>A (p.Gly2177=) c.7278G>A (p.Gly2426=) | dbSNP |
| 16 | g.3727764C>A | CA394550150 | CREBBP | c.7283G>T (p.Gly2428Val) c.7169G>T (p.Gly2390Val) c.7238G>T (p.Gly2413Val) c.6866G>T (p.Gly2289Val) c.7022G>T (p.Gly2341Val) c.7229G>T (p.Gly2410Val) c.6530G>T (p.Gly2177Val) c.7277G>T (p.Gly2426Val) | |
| 16 | g.3727764C>G | CA394550151 | CREBBP | c.7283G>C (p.Gly2428Ala) c.7169G>C (p.Gly2390Ala) c.7238G>C (p.Gly2413Ala) c.6866G>C (p.Gly2289Ala) c.7022G>C (p.Gly2341Ala) c.7229G>C (p.Gly2410Ala) c.6530G>C (p.Gly2177Ala) c.7277G>C (p.Gly2426Ala) | |
| 16 | g.3727764C>T | CA394550152 | CREBBP | c.7283G>A (p.Gly2428Glu) c.7169G>A (p.Gly2390Glu) c.7238G>A (p.Gly2413Glu) c.6866G>A (p.Gly2289Glu) c.7022G>A (p.Gly2341Glu) c.7229G>A (p.Gly2410Glu) c.6530G>A (p.Gly2177Glu) c.7277G>A (p.Gly2426Glu) | dbSNP |
| 16 | g.3727765C>A | CA394550153 | CREBBP | c.7282G>T (p.Gly2428Trp) c.7168G>T (p.Gly2390Trp) c.7237G>T (p.Gly2413Trp) c.6865G>T (p.Gly2289Trp) c.7021G>T (p.Gly2341Trp) c.7228G>T (p.Gly2410Trp) c.6529G>T (p.Gly2177Trp) c.7276G>T (p.Gly2426Trp) | |
| 16 | g.3727765C= | CA2202928326 | CREBBP | c.7282G= (p.Gly2428=) c.7168G= (p.Gly2390=) c.7237G= (p.Gly2413=) c.6865G= (p.Gly2289=) c.7021G= (p.Gly2341=) c.7228G= (p.Gly2410=) c.6529G= (p.Gly2177=) c.7276G= (p.Gly2426=) | |
| 16 | g.3727765C>G | CA394550154 | CREBBP | c.7282G>C (p.Gly2428Arg) c.7168G>C (p.Gly2390Arg) c.7237G>C (p.Gly2413Arg) c.6865G>C (p.Gly2289Arg) c.7021G>C (p.Gly2341Arg) c.7228G>C (p.Gly2410Arg) c.6529G>C (p.Gly2177Arg) c.7276G>C (p.Gly2426Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3727765C>T | CA7868917 | CREBBP | c.7282G>A (p.Gly2428Arg) c.7168G>A (p.Gly2390Arg) c.7237G>A (p.Gly2413Arg) c.6865G>A (p.Gly2289Arg) c.7021G>A (p.Gly2341Arg) c.7228G>A (p.Gly2410Arg) c.6529G>A (p.Gly2177Arg) c.7276G>A (p.Gly2426Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727766G>A | CA7868918 | CREBBP | c.7281C>T (p.Val2427=) c.7167C>T (p.Val2389=) c.7236C>T (p.Val2412=) c.6864C>T (p.Val2288=) c.7020C>T (p.Val2340=) c.7227C>T (p.Val2409=) c.6528C>T (p.Val2176=) c.7275C>T (p.Val2425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3727766G>C | CA493393081 | CREBBP | c.7281C>G (p.Val2427=) c.7167C>G (p.Val2389=) c.7236C>G (p.Val2412=) c.6864C>G (p.Val2288=) c.7020C>G (p.Val2340=) c.7227C>G (p.Val2409=) c.6528C>G (p.Val2176=) c.7275C>G (p.Val2425=) | dbSNP |
| 16 | g.3727766G= | CA2202928327 | CREBBP | c.7281C= (p.Val2427=) c.7167C= (p.Val2389=) c.7236C= (p.Val2412=) c.6864C= (p.Val2288=) c.7020C= (p.Val2340=) c.7227C= (p.Val2409=) c.6528C= (p.Val2176=) c.7275C= (p.Val2425=) | |
| 16 | g.3727766G>T | CA276970954 | CREBBP | c.7281C>A (p.Val2427=) c.7167C>A (p.Val2389=) c.7236C>A (p.Val2412=) c.6864C>A (p.Val2288=) c.7020C>A (p.Val2340=) c.7227C>A (p.Val2409=) c.6528C>A (p.Val2176=) c.7275C>A (p.Val2425=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727766_3727769delinsGACC | CA2202928328 | CREBBP | c.7278_7281delinsGGTC (p.Leu2426=) c.7164_7167delinsGGTC (p.Leu2388=) c.7233_7236delinsGGTC (p.Leu2411=) c.6861_6864delinsGGTC (p.Leu2287=) c.7017_7020delinsGGTC (p.Leu2339=) c.7224_7227delinsGGTC (p.Leu2408=) c.6525_6528delinsGGTC (p.Leu2175=) c.7272_7275delinsGGTC (p.Leu2424=) | |
| 16 | g.3727767A>C | CA394550155 | CREBBP | c.7280T>G (p.Val2427Gly) c.7166T>G (p.Val2389Gly) c.7235T>G (p.Val2412Gly) c.6863T>G (p.Val2288Gly) c.7019T>G (p.Val2340Gly) c.7226T>G (p.Val2409Gly) c.6527T>G (p.Val2176Gly) c.7274T>G (p.Val2425Gly) | dbSNP |
| 16 | g.3727767A>G | CA394550156 | CREBBP | c.7280T>C (p.Val2427Ala) c.7166T>C (p.Val2389Ala) c.7235T>C (p.Val2412Ala) c.6863T>C (p.Val2288Ala) c.7019T>C (p.Val2340Ala) c.7226T>C (p.Val2409Ala) c.6527T>C (p.Val2176Ala) c.7274T>C (p.Val2425Ala) | |
| 16 | g.3727767A>T | CA394550157 | CREBBP | c.7280T>A (p.Val2427Asp) c.7166T>A (p.Val2389Asp) c.7235T>A (p.Val2412Asp) c.6863T>A (p.Val2288Asp) c.7019T>A (p.Val2340Asp) c.7226T>A (p.Val2409Asp) c.6527T>A (p.Val2176Asp) c.7274T>A (p.Val2425Asp) | dbSNP |
| 16 | g.3727768_3727770del | CA620714430 | CREBBP | c.7278_7280del (p.Val2427del) c.7164_7166del (p.Val2389del) c.7233_7235del (p.Val2412del) c.6861_6863del (p.Val2288del) c.7017_7019del (p.Val2340del) c.7224_7226del (p.Val2409del) c.6525_6527del (p.Val2176del) c.7272_7274del (p.Val2425del) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727768C>A | CA394550158 | CREBBP | c.7279G>T (p.Val2427Phe) c.7165G>T (p.Val2389Phe) c.7234G>T (p.Val2412Phe) c.6862G>T (p.Val2288Phe) c.7018G>T (p.Val2340Phe) c.7225G>T (p.Val2409Phe) c.6526G>T (p.Val2176Phe) c.7273G>T (p.Val2425Phe) | |
| 16 | g.3727768C= | CA2202928329 | CREBBP | c.7279G= (p.Val2427=) c.7165G= (p.Val2389=) c.7234G= (p.Val2412=) c.6862G= (p.Val2288=) c.7018G= (p.Val2340=) c.7225G= (p.Val2409=) c.6526G= (p.Val2176=) c.7273G= (p.Val2425=) | |
| 16 | g.3727768C>G | CA394550159 | CREBBP | c.7279G>C (p.Val2427Leu) c.7165G>C (p.Val2389Leu) c.7234G>C (p.Val2412Leu) c.6862G>C (p.Val2288Leu) c.7018G>C (p.Val2340Leu) c.7225G>C (p.Val2409Leu) c.6526G>C (p.Val2176Leu) c.7273G>C (p.Val2425Leu) | dbSNP |
| 16 | g.3727768C>T | CA394550160 | CREBBP | c.7279G>A (p.Val2427Ile) c.7165G>A (p.Val2389Ile) c.7234G>A (p.Val2412Ile) c.6862G>A (p.Val2288Ile) c.7018G>A (p.Val2340Ile) c.7225G>A (p.Val2409Ile) c.6526G>A (p.Val2176Ile) c.7273G>A (p.Val2425Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3727769C>A | CA493393087 | CREBBP | c.7278G>T (p.Leu2426=) c.7164G>T (p.Leu2388=) c.7233G>T (p.Leu2411=) c.6861G>T (p.Leu2287=) c.7017G>T (p.Leu2339=) c.7224G>T (p.Leu2408=) c.6525G>T (p.Leu2175=) c.7272G>T (p.Leu2424=) | |
| 16 | g.3727769C>G | CA493393088 | CREBBP | c.7278G>C (p.Leu2426=) c.7164G>C (p.Leu2388=) c.7233G>C (p.Leu2411=) c.6861G>C (p.Leu2287=) c.7017G>C (p.Leu2339=) c.7224G>C (p.Leu2408=) c.6525G>C (p.Leu2175=) c.7272G>C (p.Leu2424=) | |
| 16 | g.3727769C>T | CA493393089 | CREBBP | c.7278G>A (p.Leu2426=) c.7164G>A (p.Leu2388=) c.7233G>A (p.Leu2411=) c.6861G>A (p.Leu2287=) c.7017G>A (p.Leu2339=) c.7224G>A (p.Leu2408=) c.6525G>A (p.Leu2175=) c.7272G>A (p.Leu2424=) | dbSNP |
| 16 | g.3727770A= | CA2202928330 | CREBBP | c.7277T= (p.Leu2426=) c.7163T= (p.Leu2388=) c.7232T= (p.Leu2411=) c.6860T= (p.Leu2287=) c.7016T= (p.Leu2339=) c.7223T= (p.Leu2408=) c.6524T= (p.Leu2175=) c.7271T= (p.Leu2424=) | |
| 16 | g.3727770A>C | CA394550162 | CREBBP | c.7277T>G (p.Leu2426Arg) c.7163T>G (p.Leu2388Arg) c.7232T>G (p.Leu2411Arg) c.6860T>G (p.Leu2287Arg) c.7016T>G (p.Leu2339Arg) c.7223T>G (p.Leu2408Arg) c.6524T>G (p.Leu2175Arg) c.7271T>G (p.Leu2424Arg) | |
| 16 | g.3727770A>G | CA394550161 | CREBBP | c.7277T>C (p.Leu2426Pro) c.7163T>C (p.Leu2388Pro) c.7232T>C (p.Leu2411Pro) c.6860T>C (p.Leu2287Pro) c.7016T>C (p.Leu2339Pro) c.7223T>C (p.Leu2408Pro) c.6524T>C (p.Leu2175Pro) c.7271T>C (p.Leu2424Pro) | dbSNP |
| 16 | g.3727770A>T | CA7868919 | CREBBP | c.7277T>A (p.Leu2426Gln) c.7163T>A (p.Leu2388Gln) c.7232T>A (p.Leu2411Gln) c.6860T>A (p.Leu2287Gln) c.7016T>A (p.Leu2339Gln) c.7223T>A (p.Leu2408Gln) c.6524T>A (p.Leu2175Gln) c.7271T>A (p.Leu2424Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3727771G>A | CA493393093 | CREBBP | c.7276C>T (p.Leu2426=) c.7162C>T (p.Leu2388=) c.7231C>T (p.Leu2411=) c.6859C>T (p.Leu2287=) c.7015C>T (p.Leu2339=) c.7222C>T (p.Leu2408=) c.6523C>T (p.Leu2175=) c.7270C>T (p.Leu2424=) | dbSNP |
| 16 | g.3727771G>C | CA394550163 | CREBBP | c.7276C>G (p.Leu2426Val) c.7162C>G (p.Leu2388Val) c.7231C>G (p.Leu2411Val) c.6859C>G (p.Leu2287Val) c.7015C>G (p.Leu2339Val) c.7222C>G (p.Leu2408Val) c.6523C>G (p.Leu2175Val) c.7270C>G (p.Leu2424Val) | gnomAD v4 |
| 16 | g.3727771G>T | CA394550164 | CREBBP | c.7276C>A (p.Leu2426Met) c.7162C>A (p.Leu2388Met) c.7231C>A (p.Leu2411Met) c.6859C>A (p.Leu2287Met) c.7015C>A (p.Leu2339Met) c.7222C>A (p.Leu2408Met) c.6523C>A (p.Leu2175Met) c.7270C>A (p.Leu2424Met) | dbSNP |
| 16 | g.3727772G>A | CA493393094 | CREBBP | c.7275C>T (p.Ser2425=) c.7161C>T (p.Ser2387=) c.7230C>T (p.Ser2410=) c.6858C>T (p.Ser2286=) c.7014C>T (p.Ser2338=) c.7221C>T (p.Ser2407=) c.6522C>T (p.Ser2174=) c.7269C>T (p.Ser2423=) | dbSNP gnomAD v4 |
| 16 | g.3727772G>C | CA7868920 | CREBBP | c.7275C>G (p.Ser2425=) c.7161C>G (p.Ser2387=) c.7230C>G (p.Ser2410=) c.6858C>G (p.Ser2286=) c.7014C>G (p.Ser2338=) c.7221C>G (p.Ser2407=) c.6522C>G (p.Ser2174=) c.7269C>G (p.Ser2423=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727772G= | CA2202928331 | CREBBP | c.7275C= (p.Ser2425=) c.7161C= (p.Ser2387=) c.7230C= (p.Ser2410=) c.6858C= (p.Ser2286=) c.7014C= (p.Ser2338=) c.7221C= (p.Ser2407=) c.6522C= (p.Ser2174=) c.7269C= (p.Ser2423=) | |
| 16 | g.3727772G>T | CA493393096 | CREBBP | c.7275C>A (p.Ser2425=) c.7161C>A (p.Ser2387=) c.7230C>A (p.Ser2410=) c.6858C>A (p.Ser2286=) c.7014C>A (p.Ser2338=) c.7221C>A (p.Ser2407=) c.6522C>A (p.Ser2174=) c.7269C>A (p.Ser2423=) | dbSNP |
| 16 | g.3727773G>A | CA394550165 | CREBBP | c.7274C>T (p.Ser2425Phe) c.7160C>T (p.Ser2387Phe) c.7229C>T (p.Ser2410Phe) c.6857C>T (p.Ser2286Phe) c.7013C>T (p.Ser2338Phe) c.7220C>T (p.Ser2407Phe) c.6521C>T (p.Ser2174Phe) c.7268C>T (p.Ser2423Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3727773G>C | CA7868921 | CREBBP | c.7274C>G (p.Ser2425Cys) c.7160C>G (p.Ser2387Cys) c.7229C>G (p.Ser2410Cys) c.6857C>G (p.Ser2286Cys) c.7013C>G (p.Ser2338Cys) c.7220C>G (p.Ser2407Cys) c.6521C>G (p.Ser2174Cys) c.7268C>G (p.Ser2423Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727773G= | CA2202928332 | CREBBP | c.7274C= (p.Ser2425=) c.7160C= (p.Ser2387=) c.7229C= (p.Ser2410=) c.6857C= (p.Ser2286=) c.7013C= (p.Ser2338=) c.7220C= (p.Ser2407=) c.6521C= (p.Ser2174=) c.7268C= (p.Ser2423=) | |
| 16 | g.3727773G>T | CA394550166 | CREBBP | c.7274C>A (p.Ser2425Tyr) c.7160C>A (p.Ser2387Tyr) c.7229C>A (p.Ser2410Tyr) c.6857C>A (p.Ser2286Tyr) c.7013C>A (p.Ser2338Tyr) c.7220C>A (p.Ser2407Tyr) c.6521C>A (p.Ser2174Tyr) c.7268C>A (p.Ser2423Tyr) | |
| 16 | g.3727774A>C | CA394550167 | CREBBP | c.7273T>G (p.Ser2425Ala) c.7159T>G (p.Ser2387Ala) c.7228T>G (p.Ser2410Ala) c.6856T>G (p.Ser2286Ala) c.7012T>G (p.Ser2338Ala) c.7219T>G (p.Ser2407Ala) c.6520T>G (p.Ser2174Ala) c.7267T>G (p.Ser2423Ala) | dbSNP |
| 16 | g.3727774A>G | CA394550168 | CREBBP | c.7273T>C (p.Ser2425Pro) c.7159T>C (p.Ser2387Pro) c.7228T>C (p.Ser2410Pro) c.6856T>C (p.Ser2286Pro) c.7012T>C (p.Ser2338Pro) c.7219T>C (p.Ser2407Pro) c.6520T>C (p.Ser2174Pro) c.7267T>C (p.Ser2423Pro) | dbSNP |
| 16 | g.3727774A>T | CA394550169 | CREBBP | c.7273T>A (p.Ser2425Thr) c.7159T>A (p.Ser2387Thr) c.7228T>A (p.Ser2410Thr) c.6856T>A (p.Ser2286Thr) c.7012T>A (p.Ser2338Thr) c.7219T>A (p.Ser2407Thr) c.6520T>A (p.Ser2174Thr) c.7267T>A (p.Ser2423Thr) | dbSNP |
| 16 | g.3727775C>A | CA7868922 | CREBBP | c.7272G>T (p.Leu2424=) c.7158G>T (p.Leu2386=) c.7227G>T (p.Leu2409=) c.6855G>T (p.Leu2285=) c.7011G>T (p.Leu2337=) c.7218G>T (p.Leu2406=) c.6519G>T (p.Leu2173=) c.7266G>T (p.Leu2422=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3727775C= | CA2202928333 | CREBBP | c.7272G= (p.Leu2424=) c.7158G= (p.Leu2386=) c.7227G= (p.Leu2409=) c.6855G= (p.Leu2285=) c.7011G= (p.Leu2337=) c.7218G= (p.Leu2406=) c.6519G= (p.Leu2173=) c.7266G= (p.Leu2422=) | |
| 16 | g.3727775C>G | CA493393101 | CREBBP | c.7272G>C (p.Leu2424=) c.7158G>C (p.Leu2386=) c.7227G>C (p.Leu2409=) c.6855G>C (p.Leu2285=) c.7011G>C (p.Leu2337=) c.7218G>C (p.Leu2406=) c.6519G>C (p.Leu2173=) c.7266G>C (p.Leu2422=) | dbSNP |
| 16 | g.3727775C>T | CA493393102 | CREBBP | c.7272G>A (p.Leu2424=) c.7158G>A (p.Leu2386=) c.7227G>A (p.Leu2409=) c.6855G>A (p.Leu2285=) c.7011G>A (p.Leu2337=) c.7218G>A (p.Leu2406=) c.6519G>A (p.Leu2173=) c.7266G>A (p.Leu2422=) | dbSNP |
| 16 | g.3727776A>C | CA394550170 | CREBBP | c.7271T>G (p.Leu2424Arg) c.7157T>G (p.Leu2386Arg) c.7226T>G (p.Leu2409Arg) c.6854T>G (p.Leu2285Arg) c.7010T>G (p.Leu2337Arg) c.7217T>G (p.Leu2406Arg) c.6518T>G (p.Leu2173Arg) c.7265T>G (p.Leu2422Arg) | |
| 16 | g.3727776A>G | CA394550171 | CREBBP | c.7271T>C (p.Leu2424Pro) c.7157T>C (p.Leu2386Pro) c.7226T>C (p.Leu2409Pro) c.6854T>C (p.Leu2285Pro) c.7010T>C (p.Leu2337Pro) c.7217T>C (p.Leu2406Pro) c.6518T>C (p.Leu2173Pro) c.7265T>C (p.Leu2422Pro) | dbSNP |
| 16 | g.3727776A>T | CA394550172 | CREBBP | c.7271T>A (p.Leu2424Gln) c.7157T>A (p.Leu2386Gln) c.7226T>A (p.Leu2409Gln) c.6854T>A (p.Leu2285Gln) c.7010T>A (p.Leu2337Gln) c.7217T>A (p.Leu2406Gln) c.6518T>A (p.Leu2173Gln) c.7265T>A (p.Leu2422Gln) | dbSNP |