| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3728909_3728934delinsCGCCTGGGCCTGCATGGATATCACAG | CA2202916110 | CREBBP | c.6113_6138delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2038=) c.5999_6024delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2000=) c.6068_6093delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2023=) c.5696_5721delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1899=) c.5852_5877delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1951=) c.6059_6084delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2020=) c.5360_5385delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro1787=) c.6107_6132delinsCTGTGATATCCATGCAGGCCCAGGCG (p.Pro2036=) | |
| 16 | g.3728918_3728942dup | CA915949062 | CREBBP | c.6113_6137dup (p.Ala2047CysfsTer?) c.5999_6023dup (p.Ala2009CysfsTer?) c.6068_6092dup (p.Ala2032CysfsTer?) c.5696_5720dup (p.Ala1908CysfsTer?) c.5852_5876dup (p.Ala1960CysfsTer?) c.6059_6083dup (p.Ala2029CysfsTer?) c.5360_5384dup (p.Ala1796CysfsTer?) c.6107_6131dup (p.Ala2045CysfsTer?) | ClinVar dbSNP |
| 16 | g.3728918_3728942del | CA915949063 | CREBBP | c.6113_6137del (p.Pro2038ArgfsTer29) c.5999_6023del (p.Pro2000ArgfsTer29) c.6068_6092del (p.Pro2023ArgfsTer29) c.5696_5720del (p.Pro1899ArgfsTer29) c.5852_5876del (p.Pro1951ArgfsTer29) c.6059_6083del (p.Pro2020ArgfsTer29) c.5360_5384del (p.Pro1787ArgfsTer29) c.6107_6131del (p.Pro2036ArgfsTer29) | ClinVar dbSNP |
| 16 | g.3728930_3728940delinsCACAGGCCTGG | CA2202916122 | CREBBP | c.6107_6117delinsCCAGGCCTGTG (p.Pro2036=) c.5993_6003delinsCCAGGCCTGTG (p.Pro1998=) c.6062_6072delinsCCAGGCCTGTG (p.Pro2021=) c.5690_5700delinsCCAGGCCTGTG (p.Pro1897=) c.5846_5856delinsCCAGGCCTGTG (p.Pro1949=) c.6053_6063delinsCCAGGCCTGTG (p.Pro2018=) c.5354_5364delinsCCAGGCCTGTG (p.Pro1785=) c.6101_6111delinsCCAGGCCTGTG (p.Pro2034=) | |
| 16 | g.3728931A>C | CA394554186 | CREBBP | c.6116T>G (p.Val2039Gly) c.6002T>G (p.Val2001Gly) c.6071T>G (p.Val2024Gly) c.5699T>G (p.Val1900Gly) c.5855T>G (p.Val1952Gly) c.6062T>G (p.Val2021Gly) c.5363T>G (p.Val1788Gly) c.6110T>G (p.Val2037Gly) | dbSNP gnomAD v4 |
| 16 | g.3728931A>G | CA394554187 | CREBBP | c.6116T>C (p.Val2039Ala) c.6002T>C (p.Val2001Ala) c.6071T>C (p.Val2024Ala) c.5699T>C (p.Val1900Ala) c.5855T>C (p.Val1952Ala) c.6062T>C (p.Val2021Ala) c.5363T>C (p.Val1788Ala) c.6110T>C (p.Val2037Ala) | dbSNP gnomAD v4 |
| 16 | g.3728931A>T | CA394554188 | CREBBP | c.6116T>A (p.Val2039Glu) c.6002T>A (p.Val2001Glu) c.6071T>A (p.Val2024Glu) c.5699T>A (p.Val1900Glu) c.5855T>A (p.Val1952Glu) c.6062T>A (p.Val2021Glu) c.5363T>A (p.Val1788Glu) c.6110T>A (p.Val2037Glu) | dbSNP |
| 16 | g.3728931_3728940del | CA277328 | CREBBP | c.6107_6116del (p.Pro2036ArgfsTer?) c.5993_6002del (p.Pro1998ArgfsTer?) c.6062_6071del (p.Pro2021ArgfsTer?) c.5690_5699del (p.Pro1897ArgfsTer?) c.5846_5855del (p.Pro1949ArgfsTer?) c.6053_6062del (p.Pro2018ArgfsTer?) c.5354_5363del (p.Pro1785ArgfsTer?) c.6101_6110del (p.Pro2034ArgfsTer?) | ClinVar dbSNP |
| 16 | g.3728932C>A | CA394554189 | CREBBP | c.6115G>T (p.Val2039Leu) c.6001G>T (p.Val2001Leu) c.6070G>T (p.Val2024Leu) c.5698G>T (p.Val1900Leu) c.5854G>T (p.Val1952Leu) c.6061G>T (p.Val2021Leu) c.5362G>T (p.Val1788Leu) c.6109G>T (p.Val2037Leu) | dbSNP gnomAD v4 |
| 16 | g.3728932C= | CA2202916123 | CREBBP | c.6115G= (p.Val2039=) c.6001G= (p.Val2001=) c.6070G= (p.Val2024=) c.5698G= (p.Val1900=) c.5854G= (p.Val1952=) c.6061G= (p.Val2021=) c.5362G= (p.Val1788=) c.6109G= (p.Val2037=) | |
| 16 | g.3728932C>G | CA394554190 | CREBBP | c.6115G>C (p.Val2039Leu) c.6001G>C (p.Val2001Leu) c.6070G>C (p.Val2024Leu) c.5698G>C (p.Val1900Leu) c.5854G>C (p.Val1952Leu) c.6061G>C (p.Val2021Leu) c.5362G>C (p.Val1788Leu) c.6109G>C (p.Val2037Leu) | dbSNP |
| 16 | g.3728932C>T | CA394554191 | CREBBP | c.6115G>A (p.Val2039Met) c.6001G>A (p.Val2001Met) c.6070G>A (p.Val2024Met) c.5698G>A (p.Val1900Met) c.5854G>A (p.Val1952Met) c.6061G>A (p.Val2021Met) c.5362G>A (p.Val1788Met) c.6109G>A (p.Val2037Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3728933A>C | CA493393837 | CREBBP | c.6114T>G (p.Pro2038=) c.6000T>G (p.Pro2000=) c.6069T>G (p.Pro2023=) c.5697T>G (p.Pro1899=) c.5853T>G (p.Pro1951=) c.6060T>G (p.Pro2020=) c.5361T>G (p.Pro1787=) c.6108T>G (p.Pro2036=) | dbSNP |
| 16 | g.3728933A>G | CA493393836 | CREBBP | c.6114T>C (p.Pro2038=) c.6000T>C (p.Pro2000=) c.6069T>C (p.Pro2023=) c.5697T>C (p.Pro1899=) c.5853T>C (p.Pro1951=) c.6060T>C (p.Pro2020=) c.5361T>C (p.Pro1787=) c.6108T>C (p.Pro2036=) | dbSNP gnomAD v4 |
| 16 | g.3728933A>T | CA493393835 | CREBBP | c.6114T>A (p.Pro2038=) c.6000T>A (p.Pro2000=) c.6069T>A (p.Pro2023=) c.5697T>A (p.Pro1899=) c.5853T>A (p.Pro1951=) c.6060T>A (p.Pro2020=) c.5361T>A (p.Pro1787=) c.6108T>A (p.Pro2036=) | dbSNP |
| 16 | g.3728934G>A | CA394554192 | CREBBP | c.6113C>T (p.Pro2038Leu) c.5999C>T (p.Pro2000Leu) c.6068C>T (p.Pro2023Leu) c.5696C>T (p.Pro1899Leu) c.5852C>T (p.Pro1951Leu) c.6059C>T (p.Pro2020Leu) c.5360C>T (p.Pro1787Leu) c.6107C>T (p.Pro2036Leu) | dbSNP |
| 16 | g.3728934G>C | CA394554193 | CREBBP | c.6113C>G (p.Pro2038Arg) c.5999C>G (p.Pro2000Arg) c.6068C>G (p.Pro2023Arg) c.5696C>G (p.Pro1899Arg) c.5852C>G (p.Pro1951Arg) c.6059C>G (p.Pro2020Arg) c.5360C>G (p.Pro1787Arg) c.6107C>G (p.Pro2036Arg) | |
| 16 | g.3728934G>T | CA394554194 | CREBBP | c.6113C>A (p.Pro2038His) c.5999C>A (p.Pro2000His) c.6068C>A (p.Pro2023His) c.5696C>A (p.Pro1899His) c.5852C>A (p.Pro1951His) c.6059C>A (p.Pro2020His) c.5360C>A (p.Pro1787His) c.6107C>A (p.Pro2036His) | dbSNP |
| 16 | g.3728935G>A | CA394554195 | CREBBP | c.6112C>T (p.Pro2038Ser) c.5998C>T (p.Pro2000Ser) c.6067C>T (p.Pro2023Ser) c.5695C>T (p.Pro1899Ser) c.5851C>T (p.Pro1951Ser) c.6058C>T (p.Pro2020Ser) c.5359C>T (p.Pro1787Ser) c.6106C>T (p.Pro2036Ser) | dbSNP |
| 16 | g.3728935G>C | CA394554196 | CREBBP | c.6112C>G (p.Pro2038Ala) c.5998C>G (p.Pro2000Ala) c.6067C>G (p.Pro2023Ala) c.5695C>G (p.Pro1899Ala) c.5851C>G (p.Pro1951Ala) c.6058C>G (p.Pro2020Ala) c.5359C>G (p.Pro1787Ala) c.6106C>G (p.Pro2036Ala) | dbSNP |
| 16 | g.3728935G>T | CA394554197 | CREBBP | c.6112C>A (p.Pro2038Thr) c.5998C>A (p.Pro2000Thr) c.6067C>A (p.Pro2023Thr) c.5695C>A (p.Pro1899Thr) c.5851C>A (p.Pro1951Thr) c.6058C>A (p.Pro2020Thr) c.5359C>A (p.Pro1787Thr) c.6106C>A (p.Pro2036Thr) | |
| 16 | g.3728936C>A | CA394554198 | CREBBP | c.6111G>T (p.Arg2037Ser) c.5997G>T (p.Arg1999Ser) c.6066G>T (p.Arg2022Ser) c.5694G>T (p.Arg1898Ser) c.5850G>T (p.Arg1950Ser) c.6057G>T (p.Arg2019Ser) c.5358G>T (p.Arg1786Ser) c.6105G>T (p.Arg2035Ser) | dbSNP gnomAD v4 |
| 16 | g.3728936C= | CA2202916124 | CREBBP | c.6111G= (p.Arg2037=) c.5997G= (p.Arg1999=) c.6066G= (p.Arg2022=) c.5694G= (p.Arg1898=) c.5850G= (p.Arg1950=) c.6057G= (p.Arg2019=) c.5358G= (p.Arg1786=) c.6105G= (p.Arg2035=) | |
| 16 | g.3728936C>G | CA394554199 | CREBBP | c.6111G>C (p.Arg2037Ser) c.5997G>C (p.Arg1999Ser) c.6066G>C (p.Arg2022Ser) c.5694G>C (p.Arg1898Ser) c.5850G>C (p.Arg1950Ser) c.6057G>C (p.Arg2019Ser) c.5358G>C (p.Arg1786Ser) c.6105G>C (p.Arg2035Ser) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3728936C>T | CA493393838 | CREBBP | c.6111G>A (p.Arg2037=) c.5997G>A (p.Arg1999=) c.6066G>A (p.Arg2022=) c.5694G>A (p.Arg1898=) c.5850G>A (p.Arg1950=) c.6057G>A (p.Arg2019=) c.5358G>A (p.Arg1786=) c.6105G>A (p.Arg2035=) | dbSNP gnomAD v4 |
| 16 | g.3728937C>A | CA394554200 | CREBBP | c.6110G>T (p.Arg2037Met) c.5996G>T (p.Arg1999Met) c.6065G>T (p.Arg2022Met) c.5693G>T (p.Arg1898Met) c.5849G>T (p.Arg1950Met) c.6056G>T (p.Arg2019Met) c.5357G>T (p.Arg1786Met) c.6104G>T (p.Arg2035Met) | dbSNP gnomAD v4 |
| 16 | g.3728937C= | CA2202916125 | CREBBP | c.6110G= (p.Arg2037=) c.5996G= (p.Arg1999=) c.6065G= (p.Arg2022=) c.5693G= (p.Arg1898=) c.5849G= (p.Arg1950=) c.6056G= (p.Arg2019=) c.5357G= (p.Arg1786=) c.6104G= (p.Arg2035=) | |
| 16 | g.3728937C>G | CA394554201 | CREBBP | c.6110G>C (p.Arg2037Thr) c.5996G>C (p.Arg1999Thr) c.6065G>C (p.Arg2022Thr) c.5693G>C (p.Arg1898Thr) c.5849G>C (p.Arg1950Thr) c.6056G>C (p.Arg2019Thr) c.5357G>C (p.Arg1786Thr) c.6104G>C (p.Arg2035Thr) | dbSNP |
| 16 | g.3728937C>T | CA394554202 | CREBBP | c.6110G>A (p.Arg2037Lys) c.5996G>A (p.Arg1999Lys) c.6065G>A (p.Arg2022Lys) c.5693G>A (p.Arg1898Lys) c.5849G>A (p.Arg1950Lys) c.6056G>A (p.Arg2019Lys) c.5357G>A (p.Arg1786Lys) c.6104G>A (p.Arg2035Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3728938T>A | CA394554203 | CREBBP | c.6109A>T (p.Arg2037Trp) c.5995A>T (p.Arg1999Trp) c.6064A>T (p.Arg2022Trp) c.5692A>T (p.Arg1898Trp) c.5848A>T (p.Arg1950Trp) c.6055A>T (p.Arg2019Trp) c.5356A>T (p.Arg1786Trp) c.6103A>T (p.Arg2035Trp) | |
| 16 | g.3728938T>C | CA394554204 | CREBBP | c.6109A>G (p.Arg2037Gly) c.5995A>G (p.Arg1999Gly) c.6064A>G (p.Arg2022Gly) c.5692A>G (p.Arg1898Gly) c.5848A>G (p.Arg1950Gly) c.6055A>G (p.Arg2019Gly) c.5356A>G (p.Arg1786Gly) c.6103A>G (p.Arg2035Gly) | ClinVar gnomAD v4 |
| 16 | g.3728938T>G | CA7869182 | CREBBP | c.6109A>C (p.Arg2037=) c.5995A>C (p.Arg1999=) c.6064A>C (p.Arg2022=) c.5692A>C (p.Arg1898=) c.5848A>C (p.Arg1950=) c.6055A>C (p.Arg2019=) c.5356A>C (p.Arg1786=) c.6103A>C (p.Arg2035=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.3728938T= | CA2202916126 | CREBBP | c.6109A= (p.Arg2037=) c.5995A= (p.Arg1999=) c.6064A= (p.Arg2022=) c.5692A= (p.Arg1898=) c.5848A= (p.Arg1950=) c.6055A= (p.Arg2019=) c.5356A= (p.Arg1786=) c.6103A= (p.Arg2035=) | |
| 16 | g.3728939G>A | CA493393839 | CREBBP | c.6108C>T (p.Pro2036=) c.5994C>T (p.Pro1998=) c.6063C>T (p.Pro2021=) c.5691C>T (p.Pro1897=) c.5847C>T (p.Pro1949=) c.6054C>T (p.Pro2018=) c.5355C>T (p.Pro1785=) c.6102C>T (p.Pro2034=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.3728939G>C | CA493393840 | CREBBP | c.6108C>G (p.Pro2036=) c.5994C>G (p.Pro1998=) c.6063C>G (p.Pro2021=) c.5691C>G (p.Pro1897=) c.5847C>G (p.Pro1949=) c.6054C>G (p.Pro2018=) c.5355C>G (p.Pro1785=) c.6102C>G (p.Pro2034=) | |
| 16 | g.3728939G= | CA2202916127 | CREBBP | c.6108C= (p.Pro2036=) c.5994C= (p.Pro1998=) c.6063C= (p.Pro2021=) c.5691C= (p.Pro1897=) c.5847C= (p.Pro1949=) c.6054C= (p.Pro2018=) c.5355C= (p.Pro1785=) c.6102C= (p.Pro2034=) | |
| 16 | g.3728939G>T | CA493393841 | CREBBP | c.6108C>A (p.Pro2036=) c.5994C>A (p.Pro1998=) c.6063C>A (p.Pro2021=) c.5691C>A (p.Pro1897=) c.5847C>A (p.Pro1949=) c.6054C>A (p.Pro2018=) c.5355C>A (p.Pro1785=) c.6102C>A (p.Pro2034=) | |
| 16 | g.3728940G>A | CA394554207 | CREBBP | c.6107C>T (p.Pro2036Leu) c.5993C>T (p.Pro1998Leu) c.6062C>T (p.Pro2021Leu) c.5690C>T (p.Pro1897Leu) c.5846C>T (p.Pro1949Leu) c.6053C>T (p.Pro2018Leu) c.5354C>T (p.Pro1785Leu) c.6101C>T (p.Pro2034Leu) | dbSNP |
| 16 | g.3728940G>C | CA394554205 | CREBBP | c.6107C>G (p.Pro2036Arg) c.5993C>G (p.Pro1998Arg) c.6062C>G (p.Pro2021Arg) c.5690C>G (p.Pro1897Arg) c.5846C>G (p.Pro1949Arg) c.6053C>G (p.Pro2018Arg) c.5354C>G (p.Pro1785Arg) c.6101C>G (p.Pro2034Arg) | |
| 16 | g.3728940G>T | CA394554206 | CREBBP | c.6107C>A (p.Pro2036His) c.5993C>A (p.Pro1998His) c.6062C>A (p.Pro2021His) c.5690C>A (p.Pro1897His) c.5846C>A (p.Pro1949His) c.6053C>A (p.Pro2018His) c.5354C>A (p.Pro1785His) c.6101C>A (p.Pro2034His) | |
| 16 | g.3728941G>A | CA394554208 | CREBBP | c.6106C>T (p.Pro2036Ser) c.5992C>T (p.Pro1998Ser) c.6061C>T (p.Pro2021Ser) c.5689C>T (p.Pro1897Ser) c.5845C>T (p.Pro1949Ser) c.6052C>T (p.Pro2018Ser) c.5353C>T (p.Pro1785Ser) c.6100C>T (p.Pro2034Ser) | dbSNP gnomAD v4 |
| 16 | g.3728941G>C | CA394554209 | CREBBP | c.6106C>G (p.Pro2036Ala) c.5992C>G (p.Pro1998Ala) c.6061C>G (p.Pro2021Ala) c.5689C>G (p.Pro1897Ala) c.5845C>G (p.Pro1949Ala) c.6052C>G (p.Pro2018Ala) c.5353C>G (p.Pro1785Ala) c.6100C>G (p.Pro2034Ala) | dbSNP COSMIC |
| 16 | g.3728941G= | CA2202916128 | CREBBP | c.6106C= (p.Pro2036=) c.5992C= (p.Pro1998=) c.6061C= (p.Pro2021=) c.5689C= (p.Pro1897=) c.5845C= (p.Pro1949=) c.6052C= (p.Pro2018=) c.5353C= (p.Pro1785=) c.6100C= (p.Pro2034=) | |
| 16 | g.3728941G>T | CA394554210 | CREBBP | c.6106C>A (p.Pro2036Thr) c.5992C>A (p.Pro1998Thr) c.6061C>A (p.Pro2021Thr) c.5689C>A (p.Pro1897Thr) c.5845C>A (p.Pro1949Thr) c.6052C>A (p.Pro2018Thr) c.5353C>A (p.Pro1785Thr) c.6100C>A (p.Pro2034Thr) | |
| 16 | g.3728942C>A | CA394554211 | CREBBP | c.6105G>T (p.Leu2035Phe) c.5991G>T (p.Leu1997Phe) c.6060G>T (p.Leu2020Phe) c.5688G>T (p.Leu1896Phe) c.5844G>T (p.Leu1948Phe) c.6051G>T (p.Leu2017Phe) c.5352G>T (p.Leu1784Phe) c.6099G>T (p.Leu2033Phe) | dbSNP gnomAD v4 |
| 16 | g.3728942C>G | CA394554212 | CREBBP | c.6105G>C (p.Leu2035Phe) c.5991G>C (p.Leu1997Phe) c.6060G>C (p.Leu2020Phe) c.5688G>C (p.Leu1896Phe) c.5844G>C (p.Leu1948Phe) c.6051G>C (p.Leu2017Phe) c.5352G>C (p.Leu1784Phe) c.6099G>C (p.Leu2033Phe) | dbSNP |
| 16 | g.3728942C>T | CA493393842 | CREBBP | c.6105G>A (p.Leu2035=) c.5991G>A (p.Leu1997=) c.6060G>A (p.Leu2020=) c.5688G>A (p.Leu1896=) c.5844G>A (p.Leu1948=) c.6051G>A (p.Leu2017=) c.5352G>A (p.Leu1784=) c.6099G>A (p.Leu2033=) | dbSNP gnomAD v4 |
| 16 | g.3728942_3728943delinsCA | CA2202916129 | CREBBP | c.6104_6105delinsTG (p.Leu2035=) c.5990_5991delinsTG (p.Leu1997=) c.6059_6060delinsTG (p.Leu2020=) c.5687_5688delinsTG (p.Leu1896=) c.5843_5844delinsTG (p.Leu1948=) c.6050_6051delinsTG (p.Leu2017=) c.5351_5352delinsTG (p.Leu1784=) c.6098_6099delinsTG (p.Leu2033=) | |
| 16 | g.3728943A>C | CA394554213 | CREBBP | c.6104T>G (p.Leu2035Trp) c.5990T>G (p.Leu1997Trp) c.6059T>G (p.Leu2020Trp) c.5687T>G (p.Leu1896Trp) c.5843T>G (p.Leu1948Trp) c.6050T>G (p.Leu2017Trp) c.5351T>G (p.Leu1784Trp) c.6098T>G (p.Leu2033Trp) | dbSNP |
| 16 | g.3728943A>G | CA394554215 | CREBBP | c.6104T>C (p.Leu2035Ser) c.5990T>C (p.Leu1997Ser) c.6059T>C (p.Leu2020Ser) c.5687T>C (p.Leu1896Ser) c.5843T>C (p.Leu1948Ser) c.6050T>C (p.Leu2017Ser) c.5351T>C (p.Leu1784Ser) c.6098T>C (p.Leu2033Ser) | dbSNP |