| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3810639A= | CA2202971833 | CREBBP | c.939T= (p.Asp313=) c.885T= (p.Asp295=) c.186T= (p.Asp62=) | |
| 16 | g.3810639A>C | CA394565906 | CREBBP | c.939T>G (p.Asp313Glu) c.885T>G (p.Asp295Glu) c.186T>G (p.Asp62Glu) | gnomAD v4 |
| 16 | g.3810639A>G | CA148154 | CREBBP | c.939T>C (p.Asp313=) c.885T>C (p.Asp295=) c.186T>C (p.Asp62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810639A>T | CA394565907 | CREBBP | c.939T>A (p.Asp313Glu) c.885T>A (p.Asp295Glu) c.186T>A (p.Asp62Glu) | |
| 16 | g.3810640T>A | CA394565908 | CREBBP | c.938A>T (p.Asp313Val) c.884A>T (p.Asp295Val) c.185A>T (p.Asp62Val) | |
| 16 | g.3810640T>C | CA394565909 | CREBBP | c.938A>G (p.Asp313Gly) c.884A>G (p.Asp295Gly) c.185A>G (p.Asp62Gly) | |
| 16 | g.3810640T>G | CA394565910 | CREBBP | c.938A>C (p.Asp313Ala) c.884A>C (p.Asp295Ala) c.185A>C (p.Asp62Ala) | |
| 16 | g.3810641C>A | CA394565911 | CREBBP | c.937G>T (p.Asp313Tyr) c.883G>T (p.Asp295Tyr) c.184G>T (p.Asp62Tyr) | |
| 16 | g.3810641C>G | CA394565912 | CREBBP | c.937G>C (p.Asp313His) c.883G>C (p.Asp295His) c.184G>C (p.Asp62His) | |
| 16 | g.3810641C>T | CA394565913 | CREBBP | c.937G>A (p.Asp313Asn) c.883G>A (p.Asp295Asn) c.184G>A (p.Asp62Asn) | gnomAD v4 |
| 16 | g.3810642T>A | CA493277601 | CREBBP | c.936A>T (p.Thr312=) c.882A>T (p.Thr294=) c.183A>T (p.Thr61=) | |
| 16 | g.3810642T>C | CA493277602 | CREBBP | c.936A>G (p.Thr312=) c.882A>G (p.Thr294=) c.183A>G (p.Thr61=) | |
| 16 | g.3810642T>G | CA493277603 | CREBBP | c.936A>C (p.Thr312=) c.882A>C (p.Thr294=) c.183A>C (p.Thr61=) | |
| 16 | g.3810643G>A | CA394565914 | CREBBP | c.935C>T (p.Thr312Ile) c.881C>T (p.Thr294Ile) c.182C>T (p.Thr61Ile) | dbSNP gnomAD v4 |
| 16 | g.3810643G>C | CA394565915 | CREBBP | c.935C>G (p.Thr312Arg) c.881C>G (p.Thr294Arg) c.182C>G (p.Thr61Arg) | |
| 16 | g.3810643G= | CA2202971834 | CREBBP | c.935C= (p.Thr312=) c.881C= (p.Thr294=) c.182C= (p.Thr61=) | |
| 16 | g.3810643G>T | CA394565916 | CREBBP | c.935C>A (p.Thr312Lys) c.881C>A (p.Thr294Lys) c.182C>A (p.Thr61Lys) | |
| 16 | g.3810644T>A | CA394565918 | CREBBP | c.934A>T (p.Thr312Ser) c.880A>T (p.Thr294Ser) c.181A>T (p.Thr61Ser) | dbSNP |
| 16 | g.3810644T>C | CA7870562 | CREBBP | c.934A>G (p.Thr312Ala) c.880A>G (p.Thr294Ala) c.181A>G (p.Thr61Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3810644T>G | CA394565917 | CREBBP | c.934A>C (p.Thr312Pro) c.880A>C (p.Thr294Pro) c.181A>C (p.Thr61Pro) | |
| 16 | g.3810644T= | CA2202971835 | CREBBP | c.934A= (p.Thr312=) c.880A= (p.Thr294=) c.181A= (p.Thr61=) | |
| 16 | g.3810645A= | CA2202971836 | CREBBP | c.933T= (p.Pro311=) c.879T= (p.Pro293=) c.180T= (p.Pro60=) | |
| 16 | g.3810645A>C | CA493277604 | CREBBP | c.933T>G (p.Pro311=) c.879T>G (p.Pro293=) c.180T>G (p.Pro60=) | |
| 16 | g.3810645A>G | CA277007815 | CREBBP | c.933T>C (p.Pro311=) c.879T>C (p.Pro293=) c.180T>C (p.Pro60=) | dbSNP |
| 16 | g.3810645A>T | CA493277605 | CREBBP | c.933T>A (p.Pro311=) c.879T>A (p.Pro293=) c.180T>A (p.Pro60=) | |
| 16 | g.3810646G>A | CA394565919 | CREBBP | c.932C>T (p.Pro311Leu) c.878C>T (p.Pro293Leu) c.179C>T (p.Pro60Leu) | |
| 16 | g.3810646G>C | CA394565920 | CREBBP | c.932C>G (p.Pro311Arg) c.878C>G (p.Pro293Arg) c.179C>G (p.Pro60Arg) | |
| 16 | g.3810646G>T | CA394565921 | CREBBP | c.932C>A (p.Pro311His) c.878C>A (p.Pro293His) c.179C>A (p.Pro60His) | |
| 16 | g.3810647G>A | CA394565922 | CREBBP | c.931C>T (p.Pro311Ser) c.877C>T (p.Pro293Ser) c.178C>T (p.Pro60Ser) | dbSNP COSMIC |
| 16 | g.3810647G>C | CA394565923 | CREBBP | c.931C>G (p.Pro311Ala) c.877C>G (p.Pro293Ala) c.178C>G (p.Pro60Ala) | |
| 16 | g.3810647G>T | CA394565924 | CREBBP | c.931C>A (p.Pro311Thr) c.877C>A (p.Pro293Thr) c.178C>A (p.Pro60Thr) | |
| 16 | g.3810648G>A | CA493277606 | CREBBP | c.930C>T (p.Phe310=) c.876C>T (p.Phe292=) c.177C>T (p.Phe59=) | gnomAD v4 |
| 16 | g.3810648G>C | CA394565925 | CREBBP | c.930C>G (p.Phe310Leu) c.876C>G (p.Phe292Leu) c.177C>G (p.Phe59Leu) | |
| 16 | g.3810648G>T | CA394565926 | CREBBP | c.930C>A (p.Phe310Leu) c.876C>A (p.Phe292Leu) c.177C>A (p.Phe59Leu) | |
| 16 | g.3810649A>C | CA394565927 | CREBBP | c.929T>G (p.Phe310Cys) c.875T>G (p.Phe292Cys) c.176T>G (p.Phe59Cys) | |
| 16 | g.3810649A>G | CA394565928 | CREBBP | c.929T>C (p.Phe310Ser) c.875T>C (p.Phe292Ser) c.176T>C (p.Phe59Ser) | |
| 16 | g.3810649A>T | CA394565929 | CREBBP | c.929T>A (p.Phe310Tyr) c.875T>A (p.Phe292Tyr) c.176T>A (p.Phe59Tyr) | |
| 16 | g.3810650A>C | CA394565930 | CREBBP | c.928T>G (p.Phe310Val) c.874T>G (p.Phe292Val) c.175T>G (p.Phe59Val) | |
| 16 | g.3810650A>G | CA394565931 | CREBBP | c.928T>C (p.Phe310Leu) c.874T>C (p.Phe292Leu) c.175T>C (p.Phe59Leu) | gnomAD v4 |
| 16 | g.3810650A>T | CA394565932 | CREBBP | c.928T>A (p.Phe310Ile) c.874T>A (p.Phe292Ile) c.175T>A (p.Phe59Ile) | |
| 16 | g.3810651G>A | CA7870564 | CREBBP | c.927C>T (p.Thr309=) c.873C>T (p.Thr291=) c.174C>T (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810651G>C | CA7870563 | CREBBP | c.927C>G (p.Thr309=) c.873C>G (p.Thr291=) c.174C>G (p.Thr58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810651G= | CA2202971837 | CREBBP | c.927C= (p.Thr309=) c.873C= (p.Thr291=) c.174C= (p.Thr58=) | |
| 16 | g.3810651G>T | CA493277607 | CREBBP | c.927C>A (p.Thr309=) c.873C>A (p.Thr291=) c.174C>A (p.Thr58=) | |
| 16 | g.3810652G>A | CA394565933 | CREBBP | c.926C>T (p.Thr309Ile) c.872C>T (p.Thr291Ile) c.173C>T (p.Thr58Ile) | ClinVar gnomAD v4 |
| 16 | g.3810652G>C | CA394565935 | CREBBP | c.926C>G (p.Thr309Ser) c.872C>G (p.Thr291Ser) c.173C>G (p.Thr58Ser) | dbSNP |
| 16 | g.3810652G>T | CA394565934 | CREBBP | c.926C>A (p.Thr309Asn) c.872C>A (p.Thr291Asn) c.173C>A (p.Thr58Asn) | |
| 16 | g.3810653T>A | CA394565936 | CREBBP | c.925A>T (p.Thr309Ser) c.871A>T (p.Thr291Ser) c.172A>T (p.Thr58Ser) | |
| 16 | g.3810653T>C | CA394565938 | CREBBP | c.925A>G (p.Thr309Ala) c.871A>G (p.Thr291Ala) c.172A>G (p.Thr58Ala) | |
| 16 | g.3810653T>G | CA394565937 | CREBBP | c.925A>C (p.Thr309Pro) c.871A>C (p.Thr291Pro) c.172A>C (p.Thr58Pro) | |
| 16 | g.3810654G>A | CA493277610 | CREBBP | c.924C>T (p.Pro308=) c.870C>T (p.Pro290=) c.171C>T (p.Pro57=) | |
| 16 | g.3810654G>C | CA493277608 | CREBBP | c.924C>G (p.Pro308=) c.870C>G (p.Pro290=) c.171C>G (p.Pro57=) | |
| 16 | g.3810654G>T | CA493277609 | CREBBP | c.924C>A (p.Pro308=) c.870C>A (p.Pro290=) c.171C>A (p.Pro57=) | |
| 16 | g.3810655G>A | CA394565939 | CREBBP | c.923C>T (p.Pro308Leu) c.869C>T (p.Pro290Leu) c.170C>T (p.Pro57Leu) | |
| 16 | g.3810655G>C | CA394565941 | CREBBP | c.923C>G (p.Pro308Arg) c.869C>G (p.Pro290Arg) c.170C>G (p.Pro57Arg) | |
| 16 | g.3810655G>T | CA394565940 | CREBBP | c.923C>A (p.Pro308His) c.869C>A (p.Pro290His) c.170C>A (p.Pro57His) | |
| 16 | g.3810656G>A | CA394565942 | CREBBP | c.922C>T (p.Pro308Ser) c.868C>T (p.Pro290Ser) c.169C>T (p.Pro57Ser) | dbSNP |
| 16 | g.3810656G>C | CA277007830 | CREBBP | c.922C>G (p.Pro308Ala) c.868C>G (p.Pro290Ala) c.169C>G (p.Pro57Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810656G= | CA2202971838 | CREBBP | c.922C= (p.Pro308=) c.868C= (p.Pro290=) c.169C= (p.Pro57=) | |
| 16 | g.3810656G>T | CA394565943 | CREBBP | c.922C>A (p.Pro308Thr) c.868C>A (p.Pro290Thr) c.169C>A (p.Pro57Thr) | |
| 16 | g.3810657C>A | CA394565944 | CREBBP | c.921G>T (p.Leu307Phe) c.867G>T (p.Leu289Phe) c.168G>T (p.Leu56Phe) | dbSNP |
| 16 | g.3810657C>G | CA394565945 | CREBBP | c.921G>C (p.Leu307Phe) c.867G>C (p.Leu289Phe) c.168G>C (p.Leu56Phe) | |
| 16 | g.3810657C>T | CA493277611 | CREBBP | c.921G>A (p.Leu307=) c.867G>A (p.Leu289=) c.168G>A (p.Leu56=) | gnomAD v4 |
| 16 | g.3810658A>C | CA394565946 | CREBBP | c.920T>G (p.Leu307Trp) c.866T>G (p.Leu289Trp) c.167T>G (p.Leu56Trp) | |
| 16 | g.3810658A>G | CA394565947 | CREBBP | c.920T>C (p.Leu307Ser) c.866T>C (p.Leu289Ser) c.167T>C (p.Leu56Ser) | |
| 16 | g.3810658A>T | CA394565948 | CREBBP | c.920T>A (p.Leu307Ter) c.866T>A (p.Leu289Ter) c.167T>A (p.Leu56Ter) | |
| 16 | g.3810659A>C | CA394565949 | CREBBP | c.919T>G (p.Leu307Val) c.865T>G (p.Leu289Val) c.166T>G (p.Leu56Val) | |
| 16 | g.3810659A>G | CA493277612 | CREBBP | c.919T>C (p.Leu307=) c.865T>C (p.Leu289=) c.166T>C (p.Leu56=) | |
| 16 | g.3810659A>T | CA394565950 | CREBBP | c.919T>A (p.Leu307Met) c.865T>A (p.Leu289Met) c.166T>A (p.Leu56Met) | |
| 16 | g.3810660A>C | CA394565951 | CREBBP | c.918T>G (p.Ser306Arg) c.864T>G (p.Ser288Arg) c.165T>G (p.Ser55Arg) | |
| 16 | g.3810660A>G | CA493277613 | CREBBP | c.918T>C (p.Ser306=) c.864T>C (p.Ser288=) c.165T>C (p.Ser55=) | |
| 16 | g.3810660A>T | CA394565952 | CREBBP | c.918T>A (p.Ser306Arg) c.864T>A (p.Ser288Arg) c.165T>A (p.Ser55Arg) | |
| 16 | g.3810661C>A | CA394565953 | CREBBP | c.917G>T (p.Ser306Ile) c.863G>T (p.Ser288Ile) c.164G>T (p.Ser55Ile) | |
| 16 | g.3810661C>G | CA394565954 | CREBBP | c.917G>C (p.Ser306Thr) c.863G>C (p.Ser288Thr) c.164G>C (p.Ser55Thr) | |
| 16 | g.3810661C>T | CA394565955 | CREBBP | c.917G>A (p.Ser306Asn) c.863G>A (p.Ser288Asn) c.164G>A (p.Ser55Asn) | |
| 16 | g.3810662T>A | CA394565958 | CREBBP | c.916A>T (p.Ser306Cys) c.862A>T (p.Ser288Cys) c.163A>T (p.Ser55Cys) | |
| 16 | g.3810662T>C | CA394565956 | CREBBP | c.916A>G (p.Ser306Gly) c.862A>G (p.Ser288Gly) c.163A>G (p.Ser55Gly) | |
| 16 | g.3810662T>G | CA394565957 | CREBBP | c.916A>C (p.Ser306Arg) c.862A>C (p.Ser288Arg) c.163A>C (p.Ser55Arg) | |
| 16 | g.3810663G>A | CA493277614 | CREBBP | c.915C>T (p.Asn305=) c.861C>T (p.Asn287=) c.162C>T (p.Asn54=) | dbSNP |
| 16 | g.3810663G>C | CA394565959 | CREBBP | c.915C>G (p.Asn305Lys) c.861C>G (p.Asn287Lys) c.162C>G (p.Asn54Lys) | |
| 16 | g.3810663G>T | CA394565960 | CREBBP | c.915C>A (p.Asn305Lys) c.861C>A (p.Asn287Lys) c.162C>A (p.Asn54Lys) | |
| 16 | g.3810664T>A | CA394565961 | CREBBP | c.914A>T (p.Asn305Ile) c.860A>T (p.Asn287Ile) c.161A>T (p.Asn54Ile) | gnomAD v4 |
| 16 | g.3810664T>C | CA394565962 | CREBBP | c.914A>G (p.Asn305Ser) c.860A>G (p.Asn287Ser) c.161A>G (p.Asn54Ser) | gnomAD v4 |
| 16 | g.3810664T>G | CA394565963 | CREBBP | c.914A>C (p.Asn305Thr) c.860A>C (p.Asn287Thr) c.161A>C (p.Asn54Thr) | |
| 16 | g.3810665T>A | CA394565964 | CREBBP | c.913A>T (p.Asn305Tyr) c.859A>T (p.Asn287Tyr) c.160A>T (p.Asn54Tyr) | |
| 16 | g.3810665T>C | CA394565965 | CREBBP | c.913A>G (p.Asn305Asp) c.859A>G (p.Asn287Asp) c.160A>G (p.Asn54Asp) | COSMIC |
| 16 | g.3810665T>G | CA394565966 | CREBBP | c.913A>C (p.Asn305His) c.859A>C (p.Asn287His) c.160A>C (p.Asn54His) | COSMIC |
| 16 | g.3810666G>A | CA493277615 | CREBBP | c.912C>T (p.Val304=) c.858C>T (p.Val286=) c.159C>T (p.Val53=) | |
| 16 | g.3810666G>C | CA493277616 | CREBBP | c.912C>G (p.Val304=) c.858C>G (p.Val286=) c.159C>G (p.Val53=) | |
| 16 | g.3810666G>T | CA493277617 | CREBBP | c.912C>A (p.Val304=) c.858C>A (p.Val286=) c.159C>A (p.Val53=) | |
| 16 | g.3810667A= | CA2202971840 | CREBBP | c.911T= (p.Val304=) c.857T= (p.Val286=) c.158T= (p.Val53=) | |
| 16 | g.3810667A>C | CA394565967 | CREBBP | c.911T>G (p.Val304Gly) c.857T>G (p.Val286Gly) c.158T>G (p.Val53Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810667A>G | CA394565968 | CREBBP | c.911T>C (p.Val304Ala) c.857T>C (p.Val286Ala) c.158T>C (p.Val53Ala) | gnomAD v4 |
| 16 | g.3810667A>T | CA394565969 | CREBBP | c.911T>A (p.Val304Asp) c.857T>A (p.Val286Asp) c.158T>A (p.Val53Asp) | dbSNP |
| 16 | g.3810667_3810668delinsAC | CA2202971839 | CREBBP | c.910_911delinsGT (p.Val304=) c.856_857delinsGT (p.Val286=) c.157_158delinsGT (p.Val53=) | |
| 16 | g.3810668C>A | CA394565970 | CREBBP | c.910G>T (p.Val304Phe) c.856G>T (p.Val286Phe) c.157G>T (p.Val53Phe) | |
| 16 | g.3810668C= | CA2202971841 | CREBBP | c.910G= (p.Val304=) c.856G= (p.Val286=) c.157G= (p.Val53=) | |
| 16 | g.3810668C>G | CA394565971 | CREBBP | c.910G>C (p.Val304Leu) c.856G>C (p.Val286Leu) c.157G>C (p.Val53Leu) | |
| 16 | g.3810668C>T | CA7870565 | CREBBP | c.910G>A (p.Val304Ile) c.856G>A (p.Val286Ile) c.157G>A (p.Val53Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3810669del | CA222707 | CREBBP | c.910del (p.Val304SerfsTer?) c.856del (p.Val286SerfsTer?) c.157del (p.Val53SerfsTer?) | ClinVar dbSNP |
| 16 | g.3810669C>A | CA394565972 | CREBBP | c.909G>T (p.Met303Ile) c.855G>T (p.Met285Ile) c.156G>T (p.Met52Ile) | |
| 16 | g.3810669C>G | CA394565973 | CREBBP | c.909G>C (p.Met303Ile) c.855G>C (p.Met285Ile) c.156G>C (p.Met52Ile) | |
| 16 | g.3810669C>T | CA394565974 | CREBBP | c.909G>A (p.Met303Ile) c.855G>A (p.Met285Ile) c.156G>A (p.Met52Ile) | |
| 16 | g.3810670A>C | CA394565975 | CREBBP | c.908T>G (p.Met303Arg) c.854T>G (p.Met285Arg) c.155T>G (p.Met52Arg) | |
| 16 | g.3810670A>G | CA394565976 | CREBBP | c.908T>C (p.Met303Thr) c.854T>C (p.Met285Thr) c.155T>C (p.Met52Thr) | |
| 16 | g.3810670A>T | CA394565977 | CREBBP | c.908T>A (p.Met303Lys) c.854T>A (p.Met285Lys) c.155T>A (p.Met52Lys) | |
| 16 | g.3810671T>A | CA394565978 | CREBBP | c.907A>T (p.Met303Leu) c.853A>T (p.Met285Leu) c.154A>T (p.Met52Leu) | |
| 16 | g.3810671T>C | CA394565979 | CREBBP | c.907A>G (p.Met303Val) c.853A>G (p.Met285Val) c.154A>G (p.Met52Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3810671T>G | CA394565980 | CREBBP | c.907A>C (p.Met303Leu) c.853A>C (p.Met285Leu) c.154A>C (p.Met52Leu) | |
| 16 | g.3810671T= | CA2202971842 | CREBBP | c.907A= (p.Met303=) c.853A= (p.Met285=) c.154A= (p.Met52=) | |
| 16 | g.3810672G>A | CA493277618 | CREBBP | c.906C>T (p.Ser302=) c.852C>T (p.Ser284=) c.153C>T (p.Ser51=) | dbSNP gnomAD v4 |
| 16 | g.3810672G>C | CA394565981 | CREBBP | c.906C>G (p.Ser302Arg) c.852C>G (p.Ser284Arg) c.153C>G (p.Ser51Arg) | |
| 16 | g.3810672G= | CA2202971843 | CREBBP | c.906C= (p.Ser302=) c.852C= (p.Ser284=) c.153C= (p.Ser51=) | |
| 16 | g.3810672G>T | CA394565982 | CREBBP | c.906C>A (p.Ser302Arg) c.852C>A (p.Ser284Arg) c.153C>A (p.Ser51Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3810673C>A | CA394565983 | CREBBP | c.905G>T (p.Ser302Ile) c.851G>T (p.Ser284Ile) c.152G>T (p.Ser51Ile) | |
| 16 | g.3810673C= | CA2202971844 | CREBBP | c.905G= (p.Ser302=) c.851G= (p.Ser284=) c.152G= (p.Ser51=) | |
| 16 | g.3810673C>G | CA394565984 | CREBBP | c.905G>C (p.Ser302Thr) c.851G>C (p.Ser284Thr) c.152G>C (p.Ser51Thr) | |
| 16 | g.3810673C>T | CA7870566 | CREBBP | c.905G>A (p.Ser302Asn) c.851G>A (p.Ser284Asn) c.152G>A (p.Ser51Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810675_3810676del | CA2695222699 | CREBBP | c.904_905del (p.Ser302HisfsTer?) c.850_851del (p.Ser284HisfsTer?) c.151_152del (p.Ser51HisfsTer?) | |
| 16 | g.3810674T>A | CA394565985 | CREBBP | c.904A>T (p.Ser302Cys) c.850A>T (p.Ser284Cys) c.151A>T (p.Ser51Cys) | |
| 16 | g.3810674T>C | CA394565986 | CREBBP | c.904A>G (p.Ser302Gly) c.850A>G (p.Ser284Gly) c.151A>G (p.Ser51Gly) | |
| 16 | g.3810674T>G | CA394565987 | CREBBP | c.904A>C (p.Ser302Arg) c.850A>C (p.Ser284Arg) c.151A>C (p.Ser51Arg) | gnomAD v4 |
| 16 | g.3810675C>A | CA394565988 | CREBBP | c.903G>T (p.Gln301His) c.849G>T (p.Gln283His) c.150G>T (p.Gln50His) | COSMIC |
| 16 | g.3810675C>G | CA394565989 | CREBBP | c.903G>C (p.Gln301His) c.849G>C (p.Gln283His) c.150G>C (p.Gln50His) | dbSNP |
| 16 | g.3810675C>T | CA493277619 | CREBBP | c.903G>A (p.Gln301=) c.849G>A (p.Gln283=) c.150G>A (p.Gln50=) | |
| 16 | g.3810676T>A | CA394565992 | CREBBP | c.902A>T (p.Gln301Leu) c.848A>T (p.Gln283Leu) c.149A>T (p.Gln50Leu) | |
| 16 | g.3810676T>C | CA394565990 | CREBBP | c.902A>G (p.Gln301Arg) c.848A>G (p.Gln283Arg) c.149A>G (p.Gln50Arg) | |
| 16 | g.3810676T>G | CA394565991 | CREBBP | c.902A>C (p.Gln301Pro) c.848A>C (p.Gln283Pro) c.149A>C (p.Gln50Pro) | |
| 16 | g.3810677G>A | CA394565993 | CREBBP | c.901C>T (p.Gln301Ter) c.847C>T (p.Gln283Ter) c.148C>T (p.Gln50Ter) | |
| 16 | g.3810677G>C | CA394565994 | CREBBP | c.901C>G (p.Gln301Glu) c.847C>G (p.Gln283Glu) c.148C>G (p.Gln50Glu) | |
| 16 | g.3810677G>T | CA394565995 | CREBBP | c.901C>A (p.Gln301Lys) c.847C>A (p.Gln283Lys) c.148C>A (p.Gln50Lys) | |
| 16 | g.3810678T>A | CA394565996 | CREBBP | c.900A>T (p.Lys300Asn) c.846A>T (p.Lys282Asn) c.147A>T (p.Lys49Asn) | |
| 16 | g.3810678T>C | CA493277620 | CREBBP | c.900A>G (p.Lys300=) c.846A>G (p.Lys282=) c.147A>G (p.Lys49=) | gnomAD v4 |
| 16 | g.3810678T>G | CA394565997 | CREBBP | c.900A>C (p.Lys300Asn) c.846A>C (p.Lys282Asn) c.147A>C (p.Lys49Asn) | |
| 16 | g.3810679T>A | CA394566000 | CREBBP | c.899A>T (p.Lys300Ile) c.845A>T (p.Lys282Ile) c.146A>T (p.Lys49Ile) | |
| 16 | g.3810679T>C | CA394565999 | CREBBP | c.899A>G (p.Lys300Arg) c.845A>G (p.Lys282Arg) c.146A>G (p.Lys49Arg) | |
| 16 | g.3810679T>G | CA394565998 | CREBBP | c.899A>C (p.Lys300Thr) c.845A>C (p.Lys282Thr) c.146A>C (p.Lys49Thr) | |
| 16 | g.3810680T>A | CA394566001 | CREBBP | c.898A>T (p.Lys300Ter) c.844A>T (p.Lys282Ter) c.145A>T (p.Lys49Ter) | |
| 16 | g.3810680T>C | CA394566002 | CREBBP | c.898A>G (p.Lys300Glu) c.844A>G (p.Lys282Glu) c.145A>G (p.Lys49Glu) | |
| 16 | g.3810680T>G | CA394566003 | CREBBP | c.898A>C (p.Lys300Gln) c.844A>C (p.Lys282Gln) c.145A>C (p.Lys49Gln) | |
| 16 | g.3810681G>A | CA493277621 | CREBBP | c.897C>T (p.Ser299=) c.843C>T (p.Ser281=) c.144C>T (p.Ser48=) | dbSNP |
| 16 | g.3810681G>C | CA394566004 | CREBBP | c.897C>G (p.Ser299Arg) c.843C>G (p.Ser281Arg) c.144C>G (p.Ser48Arg) | gnomAD v4 |
| 16 | g.3810681G>T | CA394566005 | CREBBP | c.897C>A (p.Ser299Arg) c.843C>A (p.Ser281Arg) c.144C>A (p.Ser48Arg) | |
| 16 | g.3810682C>A | CA394566008 | CREBBP | c.896G>T (p.Ser299Ile) c.842G>T (p.Ser281Ile) c.143G>T (p.Ser48Ile) | |
| 16 | g.3810682C>G | CA394566007 | CREBBP | c.896G>C (p.Ser299Thr) c.842G>C (p.Ser281Thr) c.143G>C (p.Ser48Thr) | |
| 16 | g.3810682C>T | CA394566006 | CREBBP | c.896G>A (p.Ser299Asn) c.842G>A (p.Ser281Asn) c.143G>A (p.Ser48Asn) | dbSNP |
| 16 | g.3810683T>A | CA394566009 | CREBBP | c.895A>T (p.Ser299Cys) c.841A>T (p.Ser281Cys) c.142A>T (p.Ser48Cys) | |
| 16 | g.3810683T>C | CA158188 | CREBBP | c.895A>G (p.Ser299Gly) c.841A>G (p.Ser281Gly) c.142A>G (p.Ser48Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810683T>G | CA394566010 | CREBBP | c.895A>C (p.Ser299Arg) c.841A>C (p.Ser281Arg) c.142A>C (p.Ser48Arg) | |
| 16 | g.3810683T= | CA2202971845 | CREBBP | c.895A= (p.Ser299=) c.841A= (p.Ser281=) c.142A= (p.Ser48=) | |
| 16 | g.3810683_3810684insC | CA2536587226 | CREBBP | c.894_895insG (p.Ser299GlufsTer?) c.840_841insG (p.Ser281GlufsTer?) c.141_142insG (p.Ser48GlufsTer?) | |
| 16 | g.3810684G>A | CA493277622 | CREBBP | c.894C>T (p.Ala298=) c.840C>T (p.Ala280=) c.141C>T (p.Ala47=) | |
| 16 | g.3810684G>C | CA493277623 | CREBBP | c.894C>G (p.Ala298=) c.840C>G (p.Ala280=) c.141C>G (p.Ala47=) | |
| 16 | g.3810684G>T | CA493277624 | CREBBP | c.894C>A (p.Ala298=) c.840C>A (p.Ala280=) c.141C>A (p.Ala47=) | |
| 16 | g.3810685G>A | CA394566011 | CREBBP | c.893C>T (p.Ala298Val) c.839C>T (p.Ala280Val) c.140C>T (p.Ala47Val) | dbSNP |
| 16 | g.3810685G>C | CA394566012 | CREBBP | c.893C>G (p.Ala298Gly) c.839C>G (p.Ala280Gly) c.140C>G (p.Ala47Gly) | |
| 16 | g.3810685G>T | CA394566013 | CREBBP | c.893C>A (p.Ala298Asp) c.839C>A (p.Ala280Asp) c.140C>A (p.Ala47Asp) | |
| 16 | g.3810686C>A | CA394566016 | CREBBP | c.892G>T (p.Ala298Ser) c.838G>T (p.Ala280Ser) c.139G>T (p.Ala47Ser) | |
| 16 | g.3810686C>G | CA394566014 | CREBBP | c.892G>C (p.Ala298Pro) c.838G>C (p.Ala280Pro) c.139G>C (p.Ala47Pro) | |
| 16 | g.3810686C>T | CA394566015 | CREBBP | c.892G>A (p.Ala298Thr) c.838G>A (p.Ala280Thr) c.139G>A (p.Ala47Thr) | |
| 16 | g.3810687del | CA2537323876 | CREBBP | c.891del (p.Ala298ProfsTer?) c.837del (p.Ala280ProfsTer?) c.138del (p.Ala47ProfsTer?) | |
| 16 | g.3810687T>A | CA394566017 | CREBBP | c.891A>T (p.Leu297Phe) c.837A>T (p.Leu279Phe) c.138A>T (p.Leu46Phe) | |
| 16 | g.3810687T>C | CA493277625 | CREBBP | c.891A>G (p.Leu297=) c.837A>G (p.Leu279=) c.138A>G (p.Leu46=) | gnomAD v3 gnomAD v4 |
| 16 | g.3810687T>G | CA394566018 | CREBBP | c.891A>C (p.Leu297Phe) c.837A>C (p.Leu279Phe) c.138A>C (p.Leu46Phe) | |
| 16 | g.3810688A>C | CA394566019 | CREBBP | c.890T>G (p.Leu297Ter) c.836T>G (p.Leu279Ter) c.137T>G (p.Leu46Ter) | |
| 16 | g.3810688A>G | CA394566020 | CREBBP | c.890T>C (p.Leu297Ser) c.836T>C (p.Leu279Ser) c.137T>C (p.Leu46Ser) | |
| 16 | g.3810688A>T | CA394566021 | CREBBP | c.890T>A (p.Leu297Ter) c.836T>A (p.Leu279Ter) c.137T>A (p.Leu46Ter) | |
| 16 | g.3810689A>C | CA394566022 | CREBBP | c.889T>G (p.Leu297Val) c.835T>G (p.Leu279Val) c.136T>G (p.Leu46Val) | |
| 16 | g.3810689A>G | CA493277626 | CREBBP | c.889T>C (p.Leu297=) c.835T>C (p.Leu279=) c.136T>C (p.Leu46=) | |
| 16 | g.3810689A>T | CA394566023 | CREBBP | c.889T>A (p.Leu297Ile) c.835T>A (p.Leu279Ile) c.136T>A (p.Leu46Ile) | |
| 16 | g.3810690C>A | CA394566024 | CREBBP | c.888G>T (p.Gln296His) c.834G>T (p.Gln278His) c.135G>T (p.Gln45His) | |
| 16 | g.3810690C>G | CA394566025 | CREBBP | c.888G>C (p.Gln296His) c.834G>C (p.Gln278His) c.135G>C (p.Gln45His) | |
| 16 | g.3810690C>T | CA493277627 | CREBBP | c.888G>A (p.Gln296=) c.834G>A (p.Gln278=) c.135G>A (p.Gln45=) | gnomAD v4 |
| 16 | g.3810691T>A | CA394566026 | CREBBP | c.887A>T (p.Gln296Leu) c.833A>T (p.Gln278Leu) c.134A>T (p.Gln45Leu) | |
| 16 | g.3810691T>C | CA394566027 | CREBBP | c.887A>G (p.Gln296Arg) c.833A>G (p.Gln278Arg) c.134A>G (p.Gln45Arg) | gnomAD v4 |
| 16 | g.3810691T>G | CA394566028 | CREBBP | c.887A>C (p.Gln296Pro) c.833A>C (p.Gln278Pro) c.134A>C (p.Gln45Pro) | dbSNP |
| 16 | g.3810691T= | CA2202971846 | CREBBP | c.887A= (p.Gln296=) c.833A= (p.Gln278=) c.134A= (p.Gln45=) | |
| 16 | g.3810692G>A | CA394566029 | CREBBP | c.886C>T (p.Gln296Ter) c.832C>T (p.Gln278Ter) c.133C>T (p.Gln45Ter) | |
| 16 | g.3810692G>C | CA394566031 | CREBBP | c.886C>G (p.Gln296Glu) c.832C>G (p.Gln278Glu) c.133C>G (p.Gln45Glu) | |
| 16 | g.3810692G>T | CA394566030 | CREBBP | c.886C>A (p.Gln296Lys) c.832C>A (p.Gln278Lys) c.133C>A (p.Gln45Lys) | dbSNP gnomAD v4 |
| 16 | g.3810696dup | CA913190688 | CREBBP | c.886dup (p.Gln296ProfsTer?) c.832dup (p.Gln278ProfsTer?) c.133dup (p.Gln45ProfsTer?) | ClinVar dbSNP |
| 16 | g.3810696del | CA2731627059 | CREBBP | c.886del (p.Gln296SerfsTer2) c.832del (p.Gln278SerfsTer2) c.133del (p.Gln45SerfsTer2) | dbSNP |
| 16 | g.3810695_3810696del | CA2695222700 | CREBBP | c.885_886del (p.Gln296ValfsTer?) c.831_832del (p.Gln278ValfsTer?) c.132_133del (p.Gln45ValfsTer?) | |
| 16 | g.3810693G>A | CA493277630 | CREBBP | c.885C>T (p.Pro295=) c.831C>T (p.Pro277=) c.132C>T (p.Pro44=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810693G>C | CA493277629 | CREBBP | c.885C>G (p.Pro295=) c.831C>G (p.Pro277=) c.132C>G (p.Pro44=) | |
| 16 | g.3810693G= | CA2202971847 | CREBBP | c.885C= (p.Pro295=) c.831C= (p.Pro277=) c.132C= (p.Pro44=) | |
| 16 | g.3810693G>T | CA493277628 | CREBBP | c.885C>A (p.Pro295=) c.831C>A (p.Pro277=) c.132C>A (p.Pro44=) | |
| 16 | g.3810694G>A | CA394566032 | CREBBP | c.884C>T (p.Pro295Leu) c.830C>T (p.Pro277Leu) c.131C>T (p.Pro44Leu) | ClinVar |
| 16 | g.3810694G>C | CA394566033 | CREBBP | c.884C>G (p.Pro295Arg) c.830C>G (p.Pro277Arg) c.131C>G (p.Pro44Arg) | gnomAD v4 |
| 16 | g.3810694G>T | CA394566034 | CREBBP | c.884C>A (p.Pro295His) c.830C>A (p.Pro277His) c.131C>A (p.Pro44His) | |
| 16 | g.3810695G>A | CA394566035 | CREBBP | c.883C>T (p.Pro295Ser) c.829C>T (p.Pro277Ser) c.130C>T (p.Pro44Ser) | |
| 16 | g.3810695G>C | CA394566036 | CREBBP | c.883C>G (p.Pro295Ala) c.829C>G (p.Pro277Ala) c.130C>G (p.Pro44Ala) | |
| 16 | g.3810695G= | CA2202971848 | CREBBP | c.883C= (p.Pro295=) c.829C= (p.Pro277=) c.130C= (p.Pro44=) | |
| 16 | g.3810695G>T | CA394566037 | CREBBP | c.883C>A (p.Pro295Thr) c.829C>A (p.Pro277Thr) c.130C>A (p.Pro44Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3810696G>A | CA493277631 | CREBBP | c.882C>T (p.Asn294=) c.828C>T (p.Asn276=) c.129C>T (p.Asn43=) | dbSNP gnomAD v4 |
| 16 | g.3810696G>C | CA394566038 | CREBBP | c.882C>G (p.Asn294Lys) c.828C>G (p.Asn276Lys) c.129C>G (p.Asn43Lys) | |
| 16 | g.3810696G>T | CA394566039 | CREBBP | c.882C>A (p.Asn294Lys) c.828C>A (p.Asn276Lys) c.129C>A (p.Asn43Lys) | ClinVar gnomAD v4 |
| 16 | g.3810697T>A | CA394566040 | CREBBP | c.881A>T (p.Asn294Ile) c.827A>T (p.Asn276Ile) c.128A>T (p.Asn43Ile) | |
| 16 | g.3810697T>C | CA394566041 | CREBBP | c.881A>G (p.Asn294Ser) c.827A>G (p.Asn276Ser) c.128A>G (p.Asn43Ser) | |
| 16 | g.3810697T>G | CA394566042 | CREBBP | c.881A>C (p.Asn294Thr) c.827A>C (p.Asn276Thr) c.128A>C (p.Asn43Thr) | |
| 16 | g.3810698dup | CA2695222701 | CREBBP | c.881dup (p.Asn294LysfsTer?) c.827dup (p.Asn276LysfsTer?) c.128dup (p.Asn43LysfsTer?) | |
| 16 | g.3810698T>A | CA394566045 | CREBBP | c.880A>T (p.Asn294Tyr) c.826A>T (p.Asn276Tyr) c.127A>T (p.Asn43Tyr) | |
| 16 | g.3810698T>C | CA394566044 | CREBBP | c.880A>G (p.Asn294Asp) c.826A>G (p.Asn276Asp) c.127A>G (p.Asn43Asp) | |
| 16 | g.3810698T>G | CA394566043 | CREBBP | c.880A>C (p.Asn294His) c.826A>C (p.Asn276His) c.127A>C (p.Asn43His) | |
| 16 | g.3810699C>A | CA493277632 | CREBBP | c.879G>T (p.Val293=) c.825G>T (p.Val275=) c.126G>T (p.Val42=) | |
| 16 | g.3810699C= | CA2202971849 | CREBBP | c.879G= (p.Val293=) c.825G= (p.Val275=) c.126G= (p.Val42=) | |
| 16 | g.3810699C>G | CA493277633 | CREBBP | c.879G>C (p.Val293=) c.825G>C (p.Val275=) c.126G>C (p.Val42=) | |
| 16 | g.3810699C>T | CA7870567 | CREBBP | c.879G>A (p.Val293=) c.825G>A (p.Val275=) c.126G>A (p.Val42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810700A= | CA2202971850 | CREBBP | c.878T= (p.Val293=) c.824T= (p.Val275=) c.125T= (p.Val42=) | |
| 16 | g.3810700A>C | CA394566046 | CREBBP | c.878T>G (p.Val293Gly) c.824T>G (p.Val275Gly) c.125T>G (p.Val42Gly) | |
| 16 | g.3810700A>G | CA394566047 | CREBBP | c.878T>C (p.Val293Ala) c.824T>C (p.Val275Ala) c.125T>C (p.Val42Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.3810700A>T | CA394566048 | CREBBP | c.878T>A (p.Val293Glu) c.824T>A (p.Val275Glu) c.125T>A (p.Val42Glu) | ClinVar dbSNP |
| 16 | g.3810701C>A | CA394566049 | CREBBP | c.877G>T (p.Val293Leu) c.823G>T (p.Val275Leu) c.124G>T (p.Val42Leu) | |
| 16 | g.3810701C= | CA2202971851 | CREBBP | c.877G= (p.Val293=) c.823G= (p.Val275=) c.124G= (p.Val42=) | |
| 16 | g.3810701C>G | CA394566050 | CREBBP | c.877G>C (p.Val293Leu) c.823G>C (p.Val275Leu) c.124G>C (p.Val42Leu) | |
| 16 | g.3810701C>T | CA394566051 | CREBBP | c.877G>A (p.Val293Met) c.823G>A (p.Val275Met) c.124G>A (p.Val42Met) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3810702T>A | CA493277634 | CREBBP | c.876A>T (p.Gly292=) c.822A>T (p.Gly274=) c.123A>T (p.Gly41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810702T>C | CA493277635 | CREBBP | c.876A>G (p.Gly292=) c.822A>G (p.Gly274=) c.123A>G (p.Gly41=) | |
| 16 | g.3810702T>G | CA493277636 | CREBBP | c.876A>C (p.Gly292=) c.822A>C (p.Gly274=) c.123A>C (p.Gly41=) | |
| 16 | g.3810702T= | CA2202971852 | CREBBP | c.876A= (p.Gly292=) c.822A= (p.Gly274=) c.123A= (p.Gly41=) | |
| 16 | g.3810703C>A | CA7870568 | CREBBP | c.875G>T (p.Gly292Val) c.821G>T (p.Gly274Val) c.122G>T (p.Gly41Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3810703C= | CA2202971853 | CREBBP | c.875G= (p.Gly292=) c.821G= (p.Gly274=) c.122G= (p.Gly41=) | |
| 16 | g.3810703C>G | CA394566052 | CREBBP | c.875G>C (p.Gly292Ala) c.821G>C (p.Gly274Ala) c.122G>C (p.Gly41Ala) | |
| 16 | g.3810703C>T | CA394566053 | CREBBP | c.875G>A (p.Gly292Glu) c.821G>A (p.Gly274Glu) c.122G>A (p.Gly41Glu) | ClinVar gnomAD v4 |
| 16 | g.3810704C>A | CA394566054 | CREBBP | c.874G>T (p.Gly292Ter) c.820G>T (p.Gly274Ter) c.121G>T (p.Gly41Ter) | |
| 16 | g.3810704C>G | CA394566055 | CREBBP | c.874G>C (p.Gly292Arg) c.820G>C (p.Gly274Arg) c.121G>C (p.Gly41Arg) | |
| 16 | g.3810704C>T | CA394566056 | CREBBP | c.874G>A (p.Gly292Arg) c.820G>A (p.Gly274Arg) c.121G>A (p.Gly41Arg) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3810705A>C | CA493277637 | CREBBP | c.873T>G (p.Thr291=) c.819T>G (p.Thr273=) c.120T>G (p.Thr40=) | |
| 16 | g.3810705A>G | CA493277638 | CREBBP | c.873T>C (p.Thr291=) c.819T>C (p.Thr273=) c.120T>C (p.Thr40=) | |
| 16 | g.3810705A>T | CA493277639 | CREBBP | c.873T>A (p.Thr291=) c.819T>A (p.Thr273=) c.120T>A (p.Thr40=) | |
| 16 | g.3810706G>A | CA394566059 | CREBBP | c.872C>T (p.Thr291Ile) c.818C>T (p.Thr273Ile) c.119C>T (p.Thr40Ile) | |
| 16 | g.3810706G>C | CA394566058 | CREBBP | c.872C>G (p.Thr291Ser) c.818C>G (p.Thr273Ser) c.119C>G (p.Thr40Ser) | dbSNP gnomAD v2 |
| 16 | g.3810706G= | CA2202971854 | CREBBP | c.872C= (p.Thr291=) c.818C= (p.Thr273=) c.119C= (p.Thr40=) | |
| 16 | g.3810706G>T | CA394566057 | CREBBP | c.872C>A (p.Thr291Asn) c.818C>A (p.Thr273Asn) c.119C>A (p.Thr40Asn) | |
| 16 | g.3810707T>A | CA394566061 | CREBBP | c.871A>T (p.Thr291Ser) c.817A>T (p.Thr273Ser) c.118A>T (p.Thr40Ser) | |
| 16 | g.3810707T>C | CA394566060 | CREBBP | c.871A>G (p.Thr291Ala) c.817A>G (p.Thr273Ala) c.118A>G (p.Thr40Ala) | gnomAD v4 COSMIC |
| 16 | g.3810707T>G | CA394566062 | CREBBP | c.871A>C (p.Thr291Pro) c.817A>C (p.Thr273Pro) c.118A>C (p.Thr40Pro) | dbSNP |
| 16 | g.3810708G>A | CA493277640 | CREBBP | c.870C>T (p.Ala290=) c.816C>T (p.Ala272=) c.117C>T (p.Ala39=) | gnomAD v4 |
| 16 | g.3810708G>C | CA493277641 | CREBBP | c.870C>G (p.Ala290=) c.816C>G (p.Ala272=) c.117C>G (p.Ala39=) | |
| 16 | g.3810708G>T | CA493277642 | CREBBP | c.870C>A (p.Ala290=) c.816C>A (p.Ala272=) c.117C>A (p.Ala39=) | |
| 16 | g.3810709G>A | CA394566063 | CREBBP | c.869C>T (p.Ala290Val) c.815C>T (p.Ala272Val) c.116C>T (p.Ala39Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810709G>C | CA394566064 | CREBBP | c.869C>G (p.Ala290Gly) c.815C>G (p.Ala272Gly) c.116C>G (p.Ala39Gly) | |
| 16 | g.3810709G= | CA2202971855 | CREBBP | c.869C= (p.Ala290=) c.815C= (p.Ala272=) c.116C= (p.Ala39=) | |
| 16 | g.3810709G>T | CA394566065 | CREBBP | c.869C>A (p.Ala290Asp) c.815C>A (p.Ala272Asp) c.116C>A (p.Ala39Asp) | |
| 16 | g.3810710C>A | CA394566066 | CREBBP | c.868G>T (p.Ala290Ser) c.814G>T (p.Ala272Ser) c.115G>T (p.Ala39Ser) | |
| 16 | g.3810710C= | CA2202971856 | CREBBP | c.868G= (p.Ala290=) c.814G= (p.Ala272=) c.115G= (p.Ala39=) | |
| 16 | g.3810710C>G | CA394566067 | CREBBP | c.868G>C (p.Ala290Pro) c.814G>C (p.Ala272Pro) c.115G>C (p.Ala39Pro) | |
| 16 | g.3810710C>T | CA7870569 | CREBBP | c.868G>A (p.Ala290Thr) c.814G>A (p.Ala272Thr) c.115G>A (p.Ala39Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.3810711T>A | CA493277643 | CREBBP | c.867A>T (p.Gly289=) c.813A>T (p.Gly271=) c.114A>T (p.Gly38=) | |
| 16 | g.3810711T>C | CA493277644 | CREBBP | c.867A>G (p.Gly289=) c.813A>G (p.Gly271=) c.114A>G (p.Gly38=) | |
| 16 | g.3810711T>G | CA493277645 | CREBBP | c.867A>C (p.Gly289=) c.813A>C (p.Gly271=) c.114A>C (p.Gly38=) | |
| 16 | g.3810712C>A | CA394566070 | CREBBP | c.866G>T (p.Gly289Val) c.812G>T (p.Gly271Val) c.113G>T (p.Gly38Val) | |
| 16 | g.3810712C>G | CA394566069 | CREBBP | c.866G>C (p.Gly289Ala) c.812G>C (p.Gly271Ala) c.113G>C (p.Gly38Ala) | |
| 16 | g.3810712C>T | CA394566068 | CREBBP | c.866G>A (p.Gly289Glu) c.812G>A (p.Gly271Glu) c.113G>A (p.Gly38Glu) | dbSNP |
| 16 | g.3810713C>A | CA394566071 | CREBBP | c.865G>T (p.Gly289Ter) c.811G>T (p.Gly271Ter) c.112G>T (p.Gly38Ter) | |
| 16 | g.3810713C= | CA2202971857 | CREBBP | c.865G= (p.Gly289=) c.811G= (p.Gly271=) c.112G= (p.Gly38=) | |
| 16 | g.3810713C>G | CA394566072 | CREBBP | c.865G>C (p.Gly289Arg) c.811G>C (p.Gly271Arg) c.112G>C (p.Gly38Arg) | |
| 16 | g.3810713C>T | CA7870570 | CREBBP | c.865G>A (p.Gly289Arg) c.811G>A (p.Gly271Arg) c.112G>A (p.Gly38Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3810714C>A | CA394566073 | CREBBP | c.864G>T (p.Met288Ile) c.810G>T (p.Met270Ile) c.111G>T (p.Met37Ile) | |
| 16 | g.3810714C>G | CA394566074 | CREBBP | c.864G>C (p.Met288Ile) c.810G>C (p.Met270Ile) c.111G>C (p.Met37Ile) | |
| 16 | g.3810714C>T | CA394566075 | CREBBP | c.864G>A (p.Met288Ile) c.810G>A (p.Met270Ile) c.111G>A (p.Met37Ile) | |
| 16 | g.3810715A>C | CA394566076 | CREBBP | c.863T>G (p.Met288Arg) c.809T>G (p.Met270Arg) c.110T>G (p.Met37Arg) | |
| 16 | g.3810715A>G | CA394566078 | CREBBP | c.863T>C (p.Met288Thr) c.809T>C (p.Met270Thr) c.110T>C (p.Met37Thr) | gnomAD v4 |
| 16 | g.3810715A>T | CA394566077 | CREBBP | c.863T>A (p.Met288Lys) c.809T>A (p.Met270Lys) c.110T>A (p.Met37Lys) | |
| 16 | g.3810716T>A | CA7870572 | CREBBP | c.862A>T (p.Met288Leu) c.808A>T (p.Met270Leu) c.109A>T (p.Met37Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3810716T>C | CA7870571 | CREBBP | c.862A>G (p.Met288Val) c.808A>G (p.Met270Val) c.109A>G (p.Met37Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3810716T>G | CA394566079 | CREBBP | c.862A>C (p.Met288Leu) c.808A>C (p.Met270Leu) c.109A>C (p.Met37Leu) | |
| 16 | g.3810716T= | CA2202971858 | CREBBP | c.862A= (p.Met288=) c.808A= (p.Met270=) c.109A= (p.Met37=) | |
| 16 | g.3810717T>A | CA493277648 | CREBBP | c.861A>T (p.Pro287=) c.807A>T (p.Pro269=) c.108A>T (p.Pro36=) | |
| 16 | g.3810717T>C | CA493277646 | CREBBP | c.861A>G (p.Pro287=) c.807A>G (p.Pro269=) c.108A>G (p.Pro36=) | gnomAD v4 |
| 16 | g.3810717T>G | CA493277647 | CREBBP | c.861A>C (p.Pro287=) c.807A>C (p.Pro269=) c.108A>C (p.Pro36=) | |
| 16 | g.3810718G>A | CA394566080 | CREBBP | c.860C>T (p.Pro287Leu) c.806C>T (p.Pro269Leu) c.107C>T (p.Pro36Leu) | ClinVar |
| 16 | g.3810718G>C | CA394566081 | CREBBP | c.860C>G (p.Pro287Arg) c.806C>G (p.Pro269Arg) c.107C>G (p.Pro36Arg) | |
| 16 | g.3810718G>T | CA394566082 | CREBBP | c.860C>A (p.Pro287Gln) c.806C>A (p.Pro269Gln) c.107C>A (p.Pro36Gln) | |
| 16 | g.3810718_3810719delinsCC | CA1139664456 | CREBBP | c.859_860delinsGG (p.Pro287Gly) c.805_806delinsGG (p.Pro269Gly) c.106_107delinsGG (p.Pro36Gly) | ClinVar |
| 16 | g.3810719G>A | CA394566083 | CREBBP | c.859C>T (p.Pro287Ser) c.805C>T (p.Pro269Ser) c.106C>T (p.Pro36Ser) | dbSNP |
| 16 | g.3810719G>C | CA394566084 | CREBBP | c.859C>G (p.Pro287Ala) c.805C>G (p.Pro269Ala) c.106C>G (p.Pro36Ala) | |
| 16 | g.3810719G>T | CA394566085 | CREBBP | c.859C>A (p.Pro287Thr) c.805C>A (p.Pro269Thr) c.106C>A (p.Pro36Thr) | |
| 16 | g.3810720C>A | CA394566086 | CREBBP | c.858G>T (p.Gln286His) n.100G>T c.804G>T (p.Gln268His) c.105G>T (p.Gln35His) | COSMIC |
| 16 | g.3810720C= | CA2202971859 | CREBBP | c.858G= (p.Gln286=) n.100G= c.804G= (p.Gln268=) c.105G= (p.Gln35=) | |
| 16 | g.3810720C>G | CA394566087 | CREBBP | c.858G>C (p.Gln286His) n.100G>C c.804G>C (p.Gln268His) c.105G>C (p.Gln35His) | |
| 16 | g.3810720C>T | CA493277649 | CREBBP | c.858G>A (p.Gln286=) n.100G>A c.804G>A (p.Gln268=) c.105G>A (p.Gln35=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3810721T>A | CA394566088 | CREBBP | c.857A>T (p.Gln286Leu) n.99A>T c.803A>T (p.Gln268Leu) c.104A>T (p.Gln35Leu) | |
| 16 | g.3810721T>C | CA394566090 | CREBBP | c.857A>G (p.Gln286Arg) n.99A>G c.803A>G (p.Gln268Arg) c.104A>G (p.Gln35Arg) | |
| 16 | g.3810721T>G | CA394566089 | CREBBP | c.857A>C (p.Gln286Pro) n.99A>C c.803A>C (p.Gln268Pro) c.104A>C (p.Gln35Pro) | |
| 16 | g.3810721T= | CA2202971860 | CREBBP | c.857A= (p.Gln286=) n.99A= c.803A= (p.Gln268=) c.104A= (p.Gln35=) | |
| 16 | g.3810722G>A | CA394566091 | CREBBP | c.856C>T (p.Gln286Ter) n.98C>T c.802C>T (p.Gln268Ter) c.103C>T (p.Gln35Ter) | dbSNP |
| 16 | g.3810722G>C | CA394566092 | CREBBP | c.856C>G (p.Gln286Glu) n.98C>G c.802C>G (p.Gln268Glu) c.103C>G (p.Gln35Glu) | |
| 16 | g.3810722G>T | CA394566093 | CREBBP | c.856C>A (p.Gln286Lys) n.98C>A c.802C>A (p.Gln268Lys) c.103C>A (p.Gln35Lys) | |
| 16 | g.3810722dup | CA919643374 | CREBBP | c.856dup (p.Gln286ProfsTer?) n.98dup c.802dup (p.Gln268ProfsTer?) c.103dup (p.Gln35ProfsTer?) | dbSNP |
| 16 | g.3810723C>A | CA493277650 | CREBBP | c.855G>T (p.Gly285=) n.97G>T c.801G>T (p.Gly267=) c.102G>T (p.Gly34=) | dbSNP |
| 16 | g.3810723C= | CA2202971861 | CREBBP | c.855G= (p.Gly285=) n.97G= c.801G= (p.Gly267=) c.102G= (p.Gly34=) | |
| 16 | g.3810723C>G | CA493277652 | CREBBP | c.855G>C (p.Gly285=) n.97G>C c.801G>C (p.Gly267=) c.102G>C (p.Gly34=) | dbSNP |
| 16 | g.3810723C>T | CA493277651 | CREBBP | c.855G>A (p.Gly285=) n.97G>A c.801G>A (p.Gly267=) c.102G>A (p.Gly34=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3810724C>A | CA394566094 | CREBBP | c.854G>T (p.Gly285Val) n.96G>T c.800G>T (p.Gly267Val) c.101G>T (p.Gly34Val) | dbSNP |
| 16 | g.3810724C>G | CA394566095 | CREBBP | c.854G>C (p.Gly285Ala) n.96G>C c.800G>C (p.Gly267Ala) c.101G>C (p.Gly34Ala) | |
| 16 | g.3810724C>T | CA394566096 | CREBBP | c.854G>A (p.Gly285Glu) n.96G>A c.800G>A (p.Gly267Glu) c.101G>A (p.Gly34Glu) | |
| 16 | g.3810725C>A | CA394566097 | CREBBP | c.853G>T (p.Gly285Trp) n.95G>T c.799G>T (p.Gly267Trp) c.100G>T (p.Gly34Trp) | dbSNP |
| 16 | g.3810725C>G | CA394566098 | CREBBP | c.853G>C (p.Gly285Arg) n.95G>C c.799G>C (p.Gly267Arg) c.100G>C (p.Gly34Arg) | |
| 16 | g.3810725C>T | CA394566099 | CREBBP | c.853G>A (p.Gly285Arg) n.95G>A c.799G>A (p.Gly267Arg) c.100G>A (p.Gly34Arg) | |
| 16 | g.3810726T>A | CA493277653 | CREBBP | c.852A>T (p.Gly284=) n.94A>T c.798A>T (p.Gly266=) c.99A>T (p.Gly33=) | COSMIC |
| 16 | g.3810726T>C | CA493277654 | CREBBP | c.852A>G (p.Gly284=) n.94A>G c.798A>G (p.Gly266=) c.99A>G (p.Gly33=) | dbSNP gnomAD v4 |
| 16 | g.3810726T>G | CA493277655 | CREBBP | c.852A>C (p.Gly284=) n.94A>C c.798A>C (p.Gly266=) c.99A>C (p.Gly33=) | |
| 16 | g.3810726T= | CA2202971862 | CREBBP | c.852A= (p.Gly284=) n.94A= c.798A= (p.Gly266=) c.99A= (p.Gly33=) | |
| 16 | g.3810727C>A | CA394566100 | CREBBP | c.851G>T (p.Gly284Val) n.93G>T c.797G>T (p.Gly266Val) c.98G>T (p.Gly33Val) | dbSNP |
| 16 | g.3810727C= | CA2202971863 | CREBBP | c.851G= (p.Gly284=) n.93G= c.797G= (p.Gly266=) c.98G= (p.Gly33=) | |
| 16 | g.3810727C>G | CA7870573 | CREBBP | c.851G>C (p.Gly284Ala) n.93G>C c.797G>C (p.Gly266Ala) c.98G>C (p.Gly33Ala) | dbSNP ExAC gnomAD v2 |
| 16 | g.3810727C>T | CA394566101 | CREBBP | c.851G>A (p.Gly284Glu) n.93G>A c.797G>A (p.Gly266Glu) c.98G>A (p.Gly33Glu) | |
| 16 | g.3810728del | CA2580091132 | CREBBP | c.851del (p.Gly284GlufsTer10) n.93del c.797del (p.Gly266GlufsTer10) c.98del (p.Gly33GlufsTer10) | ClinVar |
| 16 | g.3810728C>A | CA394566104 | CREBBP | c.850G>T (p.Gly284Ter) n.92G>T c.796G>T (p.Gly266Ter) c.97G>T (p.Gly33Ter) | |
| 16 | g.3810728C= | CA2202971864 | CREBBP | c.850G= (p.Gly284=) n.92G= c.796G= (p.Gly266=) c.97G= (p.Gly33=) | |
| 16 | g.3810728C>G | CA394566102 | CREBBP | c.850G>C (p.Gly284Arg) n.92G>C c.796G>C (p.Gly266Arg) c.97G>C (p.Gly33Arg) | |
| 16 | g.3810728C>T | CA394566103 | CREBBP | c.850G>A (p.Gly284Arg) n.92G>A c.796G>A (p.Gly266Arg) c.97G>A (p.Gly33Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3810729A>C | CA493277656 | CREBBP | c.849T>G (p.Ala283=) n.91T>G c.795T>G (p.Ala265=) c.96T>G (p.Ala32=) | |
| 16 | g.3810729A>G | CA493277657 | CREBBP | c.849T>C (p.Ala283=) n.91T>C c.795T>C (p.Ala265=) c.96T>C (p.Ala32=) | |
| 16 | g.3810729A>T | CA493277658 | CREBBP | c.849T>A (p.Ala283=) n.91T>A c.795T>A (p.Ala265=) c.96T>A (p.Ala32=) | |
| 16 | g.3810730G>A | CA394566105 | CREBBP | c.848C>T (p.Ala283Val) n.90C>T c.794C>T (p.Ala265Val) c.95C>T (p.Ala32Val) | dbSNP |
| 16 | g.3810730G>C | CA394566106 | CREBBP | c.848C>G (p.Ala283Gly) n.90C>G c.794C>G (p.Ala265Gly) c.95C>G (p.Ala32Gly) | |
| 16 | g.3810730G= | CA2202971865 | CREBBP | c.848C= (p.Ala283=) n.90C= c.794C= (p.Ala265=) c.95C= (p.Ala32=) | |
| 16 | g.3810730G>T | CA394566107 | CREBBP | c.848C>A (p.Ala283Asp) n.90C>A c.794C>A (p.Ala265Asp) c.95C>A (p.Ala32Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3810731C>A | CA394566108 | CREBBP | c.847G>T (p.Ala283Ser) n.89G>T c.793G>T (p.Ala265Ser) c.94G>T (p.Ala32Ser) | |
| 16 | g.3810731C>G | CA394566109 | CREBBP | c.847G>C (p.Ala283Pro) n.89G>C c.793G>C (p.Ala265Pro) c.94G>C (p.Ala32Pro) | |
| 16 | g.3810731C>T | CA394566110 | CREBBP | c.847G>A (p.Ala283Thr) n.89G>A c.793G>A (p.Ala265Thr) c.94G>A (p.Ala32Thr) | |
| 16 | g.3810732T>A | CA394566111 | CREBBP | c.846A>T (p.Gln282His) n.88A>T c.792A>T (p.Gln264His) c.93A>T (p.Gln31His) | |
| 16 | g.3810732T>C | CA493277659 | CREBBP | c.846A>G (p.Gln282=) n.88A>G c.792A>G (p.Gln264=) c.93A>G (p.Gln31=) | |
| 16 | g.3810732T>G | CA394566112 | CREBBP | c.846A>C (p.Gln282His) n.88A>C c.792A>C (p.Gln264His) c.93A>C (p.Gln31His) | |
| 16 | g.3810733T>A | CA394566113 | CREBBP | c.845A>T (p.Gln282Leu) n.87A>T c.791A>T (p.Gln264Leu) c.92A>T (p.Gln31Leu) | |
| 16 | g.3810733T>C | CA394566114 | CREBBP | c.845A>G (p.Gln282Arg) n.87A>G c.791A>G (p.Gln264Arg) c.92A>G (p.Gln31Arg) | |
| 16 | g.3810733T>G | CA394566115 | CREBBP | c.845A>C (p.Gln282Pro) n.87A>C c.791A>C (p.Gln264Pro) c.92A>C (p.Gln31Pro) | |
| 16 | g.3810734G>A | CA394566117 | CREBBP | c.844C>T (p.Gln282Ter) n.86C>T c.790C>T (p.Gln264Ter) c.91C>T (p.Gln31Ter) | |
| 16 | g.3810734G>C | CA394566118 | CREBBP | c.844C>G (p.Gln282Glu) n.86C>G c.790C>G (p.Gln264Glu) c.91C>G (p.Gln31Glu) | gnomAD v4 |
| 16 | g.3810734G>T | CA394566116 | CREBBP | c.844C>A (p.Gln282Lys) n.86C>A c.790C>A (p.Gln264Lys) c.91C>A (p.Gln31Lys) | |
| 16 | g.3810735A>C | CA394566119 | CREBBP | c.843T>G (p.Ser281Arg) n.85T>G c.789T>G (p.Ser263Arg) c.90T>G (p.Ser30Arg) | |
| 16 | g.3810735A>G | CA493277660 | CREBBP | c.843T>C (p.Ser281=) n.85T>C c.789T>C (p.Ser263=) c.90T>C (p.Ser30=) | |
| 16 | g.3810735A>T | CA394566120 | CREBBP | c.843T>A (p.Ser281Arg) n.85T>A c.789T>A (p.Ser263Arg) c.90T>A (p.Ser30Arg) | |
| 16 | g.3810736C>A | CA394566121 | CREBBP | c.842G>T (p.Ser281Ile) n.84G>T c.788G>T (p.Ser263Ile) c.89G>T (p.Ser30Ile) | |
| 16 | g.3810736C>G | CA394566122 | CREBBP | c.842G>C (p.Ser281Thr) n.84G>C c.788G>C (p.Ser263Thr) c.89G>C (p.Ser30Thr) | |
| 16 | g.3810736C>T | CA394566123 | CREBBP | c.842G>A (p.Ser281Asn) n.84G>A c.788G>A (p.Ser263Asn) c.89G>A (p.Ser30Asn) | |
| 16 | g.3810737T>A | CA394566124 | CREBBP | c.841A>T (p.Ser281Cys) n.83A>T c.787A>T (p.Ser263Cys) c.88A>T (p.Ser30Cys) | |
| 16 | g.3810737T>C | CA394566125 | CREBBP | c.841A>G (p.Ser281Gly) n.83A>G c.787A>G (p.Ser263Gly) c.88A>G (p.Ser30Gly) | |
| 16 | g.3810737T>G | CA394566126 | CREBBP | c.841A>C (p.Ser281Arg) n.83A>C c.787A>C (p.Ser263Arg) c.88A>C (p.Ser30Arg) | |
| 16 | g.3810738A>C | CA394566127 | CREBBP | c.840T>G (p.Phe280Leu) n.82T>G c.786T>G (p.Phe262Leu) c.87T>G (p.Phe29Leu) | |
| 16 | g.3810738A>G | CA493277661 | CREBBP | c.840T>C (p.Phe280=) n.82T>C c.786T>C (p.Phe262=) c.87T>C (p.Phe29=) | gnomAD v4 |
| 16 | g.3810738A>T | CA394566128 | CREBBP | c.840T>A (p.Phe280Leu) n.82T>A c.786T>A (p.Phe262Leu) c.87T>A (p.Phe29Leu) | |
| 16 | g.3810740dup | CA2695222702 | CREBBP | c.840dup (p.Ser281Ter) n.82dup c.786dup (p.Ser263Ter) c.87dup (p.Ser30Ter) | |
| 16 | g.3810740_3810752del | CA2697549657 | CREBBP | c.828_840del (p.Phe276LeufsTer14) n.70_82del c.774_786del (p.Phe258LeufsTer14) c.75_87del (p.Phe25LeufsTer14) | ClinVar |
| 16 | g.3810739A>C | CA394566129 | CREBBP | c.839T>G (p.Phe280Cys) n.81T>G c.785T>G (p.Phe262Cys) c.86T>G (p.Phe29Cys) | gnomAD v4 |
| 16 | g.3810739A>G | CA394566130 | CREBBP | c.839T>C (p.Phe280Ser) n.81T>C c.785T>C (p.Phe262Ser) c.86T>C (p.Phe29Ser) | gnomAD v4 |
| 16 | g.3810739A>T | CA394566131 | CREBBP | c.839T>A (p.Phe280Tyr) n.81T>A c.785T>A (p.Phe262Tyr) c.86T>A (p.Phe29Tyr) |