UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.41178725_41178754del | CA2590562682 | EP300 | c.7014_7043del (p.His2339_His2348del) c.6936_6965del (p.His2313_His2322del) | gnomAD v3 gnomAD v4 |
| 22 | g.41178730_41178745delinsTTTCCCCACAGACAAG | CA2406118750 | EP300 | c.7019_7034delinsTTTCCCCACAGACAAG (p.Val2340=) c.6941_6956delinsTTTCCCCACAGACAAG (p.Val2314=) | |
| 22 | g.41178740_41178754dup | CA2656912655 | EP300 | c.7029_7043dup (p.Pro2347_His2348insGlnThrSerSerPro) c.6951_6965dup (p.Pro2321_His2322insGlnThrSerSerPro) | gnomAD v4 |
| 22 | g.41178740_41178754del | CA10254015 | EP300 | c.7029_7043del (p.Gln2343_Pro2347del) c.6951_6965del (p.Gln2317_Pro2321del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178742C>A | CA411684034 | EP300 | c.7031C>A (p.Thr2344Lys) c.6953C>A (p.Thr2318Lys) | |
| 22 | g.41178742C>G | CA411684036 | EP300 | c.7031C>G (p.Thr2344Arg) c.6953C>G (p.Thr2318Arg) | gnomAD v4 |
| 22 | g.41178742C>T | CA411684039 | EP300 | c.7031C>T (p.Thr2344Ile) c.6953C>T (p.Thr2318Ile) | gnomAD v4 |
| 22 | g.41178743A>C | CA514794893 | EP300 | c.7032A>C (p.Thr2344=) c.6954A>C (p.Thr2318=) | |
| 22 | g.41178743A>G | CA514794890 | EP300 | c.7032A>G (p.Thr2344=) c.6954A>G (p.Thr2318=) | gnomAD v4 |
| 22 | g.41178743A>T | CA514794891 | EP300 | c.7032A>T (p.Thr2344=) c.6954A>T (p.Thr2318=) | |
| 22 | g.41178744A>C | CA411684040 | EP300 | c.7033A>C (p.Ser2345Arg) c.6955A>C (p.Ser2319Arg) | |
| 22 | g.41178744A>G | CA411684042 | EP300 | c.7033A>G (p.Ser2345Gly) c.6955A>G (p.Ser2319Gly) | gnomAD v4 |
| 22 | g.41178744A>T | CA411684045 | EP300 | c.7033A>T (p.Ser2345Cys) c.6955A>T (p.Ser2319Cys) | dbSNP |
| 22 | g.41178745G>A | CA411684049 | EP300 | c.7034G>A (p.Ser2345Asn) c.6956G>A (p.Ser2319Asn) | dbSNP |
| 22 | g.41178745G>C | CA411684053 | EP300 | c.7034G>C (p.Ser2345Thr) c.6956G>C (p.Ser2319Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178745G= | CA2406118757 | EP300 | c.7034G= (p.Ser2345=) c.6956G= (p.Ser2319=) | |
| 22 | g.41178745G>T | CA411684051 | EP300 | c.7034G>T (p.Ser2345Ile) c.6956G>T (p.Ser2319Ile) | |
| 22 | g.41178746T>A | CA411684055 | EP300 | c.7035T>A (p.Ser2345Arg) c.6957T>A (p.Ser2319Arg) | dbSNP |
| 22 | g.41178746T>C | CA514794897 | EP300 | c.7035T>C (p.Ser2345=) c.6957T>C (p.Ser2319=) | gnomAD v4 |
| 22 | g.41178746T>G | CA10254017 | EP300 | c.7035T>G (p.Ser2345Arg) c.6957T>G (p.Ser2319Arg) | dbSNP ExAC gnomAD v2 |
| 22 | g.41178746T= | CA2406118758 | EP300 | c.7035T= (p.Ser2345=) c.6957T= (p.Ser2319=) | |
| 22 | g.41178747T>A | CA411684058 | EP300 | c.7036T>A (p.Ser2346Thr) c.6958T>A (p.Ser2320Thr) | |
| 22 | g.41178747T>C | CA411684060 | EP300 | c.7036T>C (p.Ser2346Pro) c.6958T>C (p.Ser2320Pro) | |
| 22 | g.41178747T>G | CA411684062 | EP300 | c.7036T>G (p.Ser2346Ala) c.6958T>G (p.Ser2320Ala) | dbSNP gnomAD v4 |
| 22 | g.41178747T= | CA2406118759 | EP300 | c.7036T= (p.Ser2346=) c.6958T= (p.Ser2320=) | |
| 22 | g.41178748C>A | CA411684064 | EP300 | c.7037C>A (p.Ser2346Tyr) c.6959C>A (p.Ser2320Tyr) | |
| 22 | g.41178748C>G | CA411684065 | EP300 | c.7037C>G (p.Ser2346Cys) c.6959C>G (p.Ser2320Cys) | |
| 22 | g.41178748C>T | CA411684067 | EP300 | c.7037C>T (p.Ser2346Phe) c.6959C>T (p.Ser2320Phe) | gnomAD v4 |
| 22 | g.41178749C>A | CA514794901 | EP300 | c.7038C>A (p.Ser2346=) c.6960C>A (p.Ser2320=) | |
| 22 | g.41178749C= | CA2406118760 | EP300 | c.7038C= (p.Ser2346=) c.6960C= (p.Ser2320=) | |
| 22 | g.41178749C>G | CA514794904 | EP300 | c.7038C>G (p.Ser2346=) c.6960C>G (p.Ser2320=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178749C>T | CA514794905 | EP300 | c.7038C>T (p.Ser2346=) c.6960C>T (p.Ser2320=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178750C>A | CA411684069 | EP300 | c.7039C>A (p.Pro2347Thr) c.6961C>A (p.Pro2321Thr) | dbSNP |
| 22 | g.41178750C= | CA2406118761 | EP300 | c.7039C= (p.Pro2347=) c.6961C= (p.Pro2321=) | |
| 22 | g.41178750C>G | CA411684070 | EP300 | c.7039C>G (p.Pro2347Ala) c.6961C>G (p.Pro2321Ala) | gnomAD v4 |
| 22 | g.41178750C>T | CA411684072 | EP300 | c.7039C>T (p.Pro2347Ser) c.6961C>T (p.Pro2321Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178752_41178757del | CA2573055023 | EP300 | c.7041_7046del (p.His2348_Pro2349del) c.6963_6968del (p.His2322_Pro2323del) | ClinVar dbSNP |
| 22 | g.41178751C>A | CA411684074 | EP300 | c.7040C>A (p.Pro2347Gln) c.6962C>A (p.Pro2321Gln) | dbSNP |
| 22 | g.41178751C>G | CA411684076 | EP300 | c.7040C>G (p.Pro2347Arg) c.6962C>G (p.Pro2321Arg) | |
| 22 | g.41178751C>T | CA411684078 | EP300 | c.7040C>T (p.Pro2347Leu) c.6962C>T (p.Pro2321Leu) | |
| 22 | g.41178752A= | CA2406118762 | EP300 | c.7041A= (p.Pro2347=) c.6963A= (p.Pro2321=) | |
| 22 | g.41178752A>C | CA514794910 | EP300 | c.7041A>C (p.Pro2347=) c.6963A>C (p.Pro2321=) | |
| 22 | g.41178752A>G | CA324520262 | EP300 | c.7041A>G (p.Pro2347=) c.6963A>G (p.Pro2321=) | dbSNP |
| 22 | g.41178752A>T | CA514794911 | EP300 | c.7041A>T (p.Pro2347=) c.6963A>T (p.Pro2321=) | |
| 22 | g.41178753C>A | CA411684084 | EP300 | c.7042C>A (p.His2348Asn) c.6964C>A (p.His2322Asn) | |
| 22 | g.41178753C>G | CA411684080 | EP300 | c.7042C>G (p.His2348Asp) c.6964C>G (p.His2322Asp) | |
| 22 | g.41178753C>T | CA411684082 | EP300 | c.7042C>T (p.His2348Tyr) c.6964C>T (p.His2322Tyr) | |
| 22 | g.41178754A= | CA2406118763 | EP300 | c.7043A= (p.His2348=) c.6965A= (p.His2322=) | |
| 22 | g.41178754A>C | CA411684086 | EP300 | c.7043A>C (p.His2348Pro) c.6965A>C (p.His2322Pro) | |
| 22 | g.41178754A>G | CA411684087 | EP300 | c.7043A>G (p.His2348Arg) c.6965A>G (p.His2322Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178754A>T | CA411684089 | EP300 | c.7043A>T (p.His2348Leu) c.6965A>T (p.His2322Leu) | |
| 22 | g.41178755T>A | CA411684091 | EP300 | c.7044T>A (p.His2348Gln) c.6966T>A (p.His2322Gln) | |
| 22 | g.41178755T>C | CA514794913 | EP300 | c.7044T>C (p.His2348=) c.6966T>C (p.His2322=) | |
| 22 | g.41178755T>G | CA411684093 | EP300 | c.7044T>G (p.His2348Gln) c.6966T>G (p.His2322Gln) | |
| 22 | g.41178756C>A | CA411684096 | EP300 | c.7045C>A (p.Pro2349Thr) c.6967C>A (p.Pro2323Thr) | gnomAD v4 |
| 22 | g.41178756C= | CA2406118764 | EP300 | c.7045C= (p.Pro2349=) c.6967C= (p.Pro2323=) | |
| 22 | g.41178756C>G | CA324520263 | EP300 | c.7045C>G (p.Pro2349Ala) c.6967C>G (p.Pro2323Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178756C>T | CA10254018 | EP300 | c.7045C>T (p.Pro2349Ser) c.6967C>T (p.Pro2323Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178757C>A | CA411684099 | EP300 | c.7046C>A (p.Pro2349His) c.6968C>A (p.Pro2323His) | dbSNP |
| 22 | g.41178757C>G | CA411684101 | EP300 | c.7046C>G (p.Pro2349Arg) c.6968C>G (p.Pro2323Arg) | gnomAD v4 |
| 22 | g.41178757C>T | CA411684103 | EP300 | c.7046C>T (p.Pro2349Leu) c.6968C>T (p.Pro2323Leu) | gnomAD v4 |
| 22 | g.41178758T>A | CA514794918 | EP300 | c.7047T>A (p.Pro2349=) c.6969T>A (p.Pro2323=) | |
| 22 | g.41178758T>C | CA514794920 | EP300 | c.7047T>C (p.Pro2349=) c.6969T>C (p.Pro2323=) | |
| 22 | g.41178758T>G | CA514794922 | EP300 | c.7047T>G (p.Pro2349=) c.6969T>G (p.Pro2323=) | |
| 22 | g.41178758_41178766delinsCCACA | CA2695230922 | EP300 | c.7047_7055delinsCCACA (p.Gly2350HisfsTer?) c.6969_6977delinsCCACA (p.Gly2324HisfsTer?) | |
| 22 | g.41178759G>A | CA411684109 | EP300 | c.7048G>A (p.Gly2350Arg) c.6970G>A (p.Gly2324Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178759G>C | CA411684107 | EP300 | c.7048G>C (p.Gly2350Arg) c.6970G>C (p.Gly2324Arg) | COSMIC |
| 22 | g.41178759G= | CA2406118765 | EP300 | c.7048G= (p.Gly2350=) c.6970G= (p.Gly2324=) | |
| 22 | g.41178759G>T | CA411684105 | EP300 | c.7048G>T (p.Gly2350Ter) c.6970G>T (p.Gly2324Ter) | |
| 22 | g.41178760G>A | CA10254019 | EP300 | c.7049G>A (p.Gly2350Glu) c.6971G>A (p.Gly2324Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178760G>C | CA324520279 | EP300 | c.7049G>C (p.Gly2350Ala) c.6971G>C (p.Gly2324Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178760G= | CA2406118766 | EP300 | c.7049G= (p.Gly2350=) c.6971G= (p.Gly2324=) | |
| 22 | g.41178760G>T | CA411684112 | EP300 | c.7049G>T (p.Gly2350Val) c.6971G>T (p.Gly2324Val) | |
| 22 | g.41178761A= | CA2406118767 | EP300 | c.7050A= (p.Gly2350=) c.6972A= (p.Gly2324=) | |
| 22 | g.41178761A>C | CA10254020 | EP300 | c.7050A>C (p.Gly2350=) c.6972A>C (p.Gly2324=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178761A>G | CA514794923 | EP300 | c.7050A>G (p.Gly2350=) c.6972A>G (p.Gly2324=) | |
| 22 | g.41178761A>T | CA514794924 | EP300 | c.7050A>T (p.Gly2350=) c.6972A>T (p.Gly2324=) | |
| 22 | g.41178762C>A | CA411684114 | EP300 | c.7051C>A (p.Leu2351Met) c.6973C>A (p.Leu2325Met) | |
| 22 | g.41178762C>G | CA411684116 | EP300 | c.7051C>G (p.Leu2351Val) c.6973C>G (p.Leu2325Val) | |
| 22 | g.41178762C>T | CA514794927 | EP300 | c.7051C>T (p.Leu2351=) c.6973C>T (p.Leu2325=) | gnomAD v4 |
| 22 | g.41178763T>A | CA411684118 | EP300 | c.7052T>A (p.Leu2351Gln) c.6974T>A (p.Leu2325Gln) | |
| 22 | g.41178763T>C | CA411684120 | EP300 | c.7052T>C (p.Leu2351Pro) c.6974T>C (p.Leu2325Pro) | |
| 22 | g.41178763T>G | CA411684122 | EP300 | c.7052T>G (p.Leu2351Arg) c.6974T>G (p.Leu2325Arg) | |
| 22 | g.41178764G>A | CA514794928 | EP300 | c.7053G>A (p.Leu2351=) c.6975G>A (p.Leu2325=) | dbSNP gnomAD v4 |
| 22 | g.41178764G>C | CA514794930 | EP300 | c.7053G>C (p.Leu2351=) c.6975G>C (p.Leu2325=) | gnomAD v4 |
| 22 | g.41178764G>T | CA514794929 | EP300 | c.7053G>T (p.Leu2351=) c.6975G>T (p.Leu2325=) | |
| 22 | g.41178765G>A | CA324520283 | EP300 | c.7054G>A (p.Val2352Ile) c.6976G>A (p.Val2326Ile) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178765G>C | CA411684125 | EP300 | c.7054G>C (p.Val2352Leu) c.6976G>C (p.Val2326Leu) | |
| 22 | g.41178765G= | CA2406118768 | EP300 | c.7054G= (p.Val2352=) c.6976G= (p.Val2326=) | |
| 22 | g.41178765G>T | CA411684127 | EP300 | c.7054G>T (p.Val2352Leu) c.6976G>T (p.Val2326Leu) | |
| 22 | g.41178766T>A | CA411684131 | EP300 | c.7055T>A (p.Val2352Glu) c.6977T>A (p.Val2326Glu) | |
| 22 | g.41178766T>C | CA411684129 | EP300 | c.7055T>C (p.Val2352Ala) c.6977T>C (p.Val2326Ala) | |
| 22 | g.41178766T>G | CA324520289 | EP300 | c.7055T>G (p.Val2352Gly) c.6977T>G (p.Val2326Gly) | dbSNP |
| 22 | g.41178766T= | CA2406118769 | EP300 | c.7055T= (p.Val2352=) c.6977T= (p.Val2326=) | |
| 22 | g.41178766_41178769delinsTAGC | CA2406118770 | EP300 | c.7055_7058delinsTAGC (p.Val2352=) c.6977_6980delinsTAGC (p.Val2326=) | |
| 22 | g.41178767A>C | CA514794935 | EP300 | c.7056A>C (p.Val2352=) c.6978A>C (p.Val2326=) | |
| 22 | g.41178767A>G | CA514794933 | EP300 | c.7056A>G (p.Val2352=) c.6978A>G (p.Val2326=) | dbSNP gnomAD v4 |
| 22 | g.41178767A>T | CA514794934 | EP300 | c.7056A>T (p.Val2352=) c.6978A>T (p.Val2326=) | |
| 22 | g.41178767_41178769del | CA1025846427 | EP300 | c.7056_7058del (p.Ala2353del) c.6978_6980del (p.Ala2327del) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178768G>A | CA411684133 | EP300 | c.7057G>A (p.Ala2353Thr) c.6979G>A (p.Ala2327Thr) | dbSNP |
| 22 | g.41178768G>C | CA411684134 | EP300 | c.7057G>C (p.Ala2353Pro) c.6979G>C (p.Ala2327Pro) | |
| 22 | g.41178768G>T | CA411684136 | EP300 | c.7057G>T (p.Ala2353Ser) c.6979G>T (p.Ala2327Ser) | |
| 22 | g.41178769C>A | CA411684138 | EP300 | c.7058C>A (p.Ala2353Asp) c.6980C>A (p.Ala2327Asp) | dbSNP |
| 22 | g.41178769C= | CA2406118771 | EP300 | c.7058C= (p.Ala2353=) c.6980C= (p.Ala2327=) | |
| 22 | g.41178769C>G | CA10254021 | EP300 | c.7058C>G (p.Ala2353Gly) c.6980C>G (p.Ala2327Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178769C>T | CA411684141 | EP300 | c.7058C>T (p.Ala2353Val) c.6980C>T (p.Ala2327Val) | dbSNP gnomAD v4 |
| 22 | g.41178770T>A | CA514794938 | EP300 | c.7059T>A (p.Ala2353=) c.6981T>A (p.Ala2327=) | |
| 22 | g.41178770T>C | CA514794939 | EP300 | c.7059T>C (p.Ala2353=) c.6981T>C (p.Ala2327=) | dbSNP |
| 22 | g.41178770T>G | CA514794940 | EP300 | c.7059T>G (p.Ala2353=) c.6981T>G (p.Ala2327=) | |
| 22 | g.41178770T= | CA2406118772 | EP300 | c.7059T= (p.Ala2353=) c.6981T= (p.Ala2327=) | |
| 22 | g.41178771G>A | CA411684143 | EP300 | c.7060G>A (p.Ala2354Thr) c.6982G>A (p.Ala2328Thr) | dbSNP |
| 22 | g.41178771G>C | CA411684145 | EP300 | c.7060G>C (p.Ala2354Pro) c.6982G>C (p.Ala2328Pro) | dbSNP gnomAD v2 |
| 22 | g.41178771G= | CA2406118773 | EP300 | c.7060G= (p.Ala2354=) c.6982G= (p.Ala2328=) | |
| 22 | g.41178771G>T | CA10254022 | EP300 | c.7060G>T (p.Ala2354Ser) c.6982G>T (p.Ala2328Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178772C>A | CA411684147 | EP300 | c.7061C>A (p.Ala2354Asp) c.6983C>A (p.Ala2328Asp) | dbSNP |
| 22 | g.41178772C= | CA2406118774 | EP300 | c.7061C= (p.Ala2354=) c.6983C= (p.Ala2328=) | |
| 22 | g.41178772C>G | CA411684148 | EP300 | c.7061C>G (p.Ala2354Gly) c.6983C>G (p.Ala2328Gly) | |
| 22 | g.41178772C>T | CA10254023 | EP300 | c.7061C>T (p.Ala2354Val) c.6983C>T (p.Ala2328Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.41178773C>A | CA514794944 | EP300 | c.7062C>A (p.Ala2354=) c.6984C>A (p.Ala2328=) | |
| 22 | g.41178773C>G | CA514794945 | EP300 | c.7062C>G (p.Ala2354=) c.6984C>G (p.Ala2328=) | |
| 22 | g.41178773C>T | CA514794947 | EP300 | c.7062C>T (p.Ala2354=) c.6984C>T (p.Ala2328=) | |
| 22 | g.41178774C>A | CA10254024 | EP300 | c.7063C>A (p.Gln2355Lys) c.6985C>A (p.Gln2329Lys) | dbSNP ExAC |
| 22 | g.41178774C= | CA2406118775 | EP300 | c.7063C= (p.Gln2355=) c.6985C= (p.Gln2329=) | |
| 22 | g.41178774C>G | CA411684154 | EP300 | c.7063C>G (p.Gln2355Glu) c.6985C>G (p.Gln2329Glu) | |
| 22 | g.41178774C>T | CA411684152 | EP300 | c.7063C>T (p.Gln2355Ter) c.6985C>T (p.Gln2329Ter) | |
| 22 | g.41178775A= | CA2406118776 | EP300 | c.7064A= (p.Gln2355=) c.6986A= (p.Gln2329=) | |
| 22 | g.41178775A>C | CA411684157 | EP300 | c.7064A>C (p.Gln2355Pro) c.6986A>C (p.Gln2329Pro) | |
| 22 | g.41178775A>G | CA411684160 | EP300 | c.7064A>G (p.Gln2355Arg) c.6986A>G (p.Gln2329Arg) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178775A>T | CA411684158 | EP300 | c.7064A>T (p.Gln2355Leu) c.6986A>T (p.Gln2329Leu) | |
| 22 | g.41178776G>A | CA514794948 | EP300 | c.7065G>A (p.Gln2355=) c.6987G>A (p.Gln2329=) | |
| 22 | g.41178776G>C | CA411684162 | EP300 | c.7065G>C (p.Gln2355His) c.6987G>C (p.Gln2329His) | |
| 22 | g.41178776G= | CA2406118777 | EP300 | c.7065G= (p.Gln2355=) c.6987G= (p.Gln2329=) | |
| 22 | g.41178776G>T | CA411684164 | EP300 | c.7065G>T (p.Gln2355His) c.6987G>T (p.Gln2329His) | COSMIC |
| 22 | g.41178777G>A | CA411684166 | EP300 | c.7066G>A (p.Ala2356Thr) c.6988G>A (p.Ala2330Thr) | dbSNP gnomAD v4 |
| 22 | g.41178777G>C | CA411684170 | EP300 | c.7066G>C (p.Ala2356Pro) c.6988G>C (p.Ala2330Pro) | dbSNP |
| 22 | g.41178777G= | CA2406118778 | EP300 | c.7066G= (p.Ala2356=) c.6988G= (p.Ala2330=) | |
| 22 | g.41178777G>T | CA411684168 | EP300 | c.7066G>T (p.Ala2356Ser) c.6988G>T (p.Ala2330Ser) | dbSNP |
| 22 | g.41178781_41178807dup | CA1025846432 | EP300 | c.7070_7096dup (p.Ala2365_Ser2366insAsnProMetGluGlnGlyHisPheAla) c.6992_7018dup (p.Ala2339_Ser2340insAsnProMetGluGlnGlyHisPheAla) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178778C>A | CA411684172 | EP300 | c.7067C>A (p.Ala2356Asp) c.6989C>A (p.Ala2330Asp) | dbSNP |
| 22 | g.41178778C>G | CA411684176 | EP300 | c.7067C>G (p.Ala2356Gly) c.6989C>G (p.Ala2330Gly) | dbSNP gnomAD v4 |
| 22 | g.41178778C>T | CA411684174 | EP300 | c.7067C>T (p.Ala2356Val) c.6989C>T (p.Ala2330Val) | dbSNP gnomAD v4 |
| 22 | g.41178779C>A | CA514794954 | EP300 | c.7068C>A (p.Ala2356=) c.6990C>A (p.Ala2330=) | dbSNP |
| 22 | g.41178779C= | CA2406118779 | EP300 | c.7068C= (p.Ala2356=) c.6990C= (p.Ala2330=) | |
| 22 | g.41178779C>G | CA514794952 | EP300 | c.7068C>G (p.Ala2356=) c.6990C>G (p.Ala2330=) | |
| 22 | g.41178779C>T | CA514794953 | EP300 | c.7068C>T (p.Ala2356=) c.6990C>T (p.Ala2330=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178780A>C | CA411684178 | EP300 | c.7069A>C (p.Asn2357His) c.6991A>C (p.Asn2331His) | dbSNP |
| 22 | g.41178780A>G | CA411684180 | EP300 | c.7069A>G (p.Asn2357Asp) c.6991A>G (p.Asn2331Asp) | |
| 22 | g.41178780A>T | CA411684181 | EP300 | c.7069A>T (p.Asn2357Tyr) c.6991A>T (p.Asn2331Tyr) | dbSNP |
| 22 | g.41178781A= | CA2406118780 | EP300 | c.7070A= (p.Asn2357=) c.6992A= (p.Asn2331=) | |
| 22 | g.41178781A>C | CA411684183 | EP300 | c.7070A>C (p.Asn2357Thr) c.6992A>C (p.Asn2331Thr) | dbSNP |
| 22 | g.41178781A>G | CA10254026 | EP300 | c.7070A>G (p.Asn2357Ser) c.6992A>G (p.Asn2331Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178781A>T | CA10254025 | EP300 | c.7070A>T (p.Asn2357Ile) c.6992A>T (p.Asn2331Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178781_41178782delinsAC | CA2406118781 | EP300 | c.7070_7071delinsAC (p.Asn2357=) c.6992_6993delinsAC (p.Asn2331=) | |
| 22 | g.41178782C>A | CA411684187 | EP300 | c.7071C>A (p.Asn2357Lys) c.6993C>A (p.Asn2331Lys) | dbSNP gnomAD v4 |
| 22 | g.41178782C>G | CA411684189 | EP300 | c.7071C>G (p.Asn2357Lys) c.6993C>G (p.Asn2331Lys) | dbSNP |
| 22 | g.41178782C>T | CA514794955 | EP300 | c.7071C>T (p.Asn2357=) c.6993C>T (p.Asn2331=) | dbSNP gnomAD v4 |
| 22 | g.41178785del | CA920373047 | EP300 | c.7074del (p.Met2359TrpfsTer?) c.6996del (p.Met2333TrpfsTer?) | dbSNP |
| 22 | g.41178783C>A | CA411684191 | EP300 | c.7072C>A (p.Pro2358Thr) c.6994C>A (p.Pro2332Thr) | |
| 22 | g.41178783C= | CA2406118782 | EP300 | c.7072C= (p.Pro2358=) c.6994C= (p.Pro2332=) | |
| 22 | g.41178783C>G | CA411684193 | EP300 | c.7072C>G (p.Pro2358Ala) c.6994C>G (p.Pro2332Ala) | ClinVar dbSNP |
| 22 | g.41178783C>T | CA411684195 | EP300 | c.7072C>T (p.Pro2358Ser) c.6994C>T (p.Pro2332Ser) | dbSNP |
| 22 | g.41178784C>A | CA411684198 | EP300 | c.7073C>A (p.Pro2358His) c.6995C>A (p.Pro2332His) | dbSNP gnomAD v4 |
| 22 | g.41178784C= | CA2406118783 | EP300 | c.7073C= (p.Pro2358=) c.6995C= (p.Pro2332=) | |
| 22 | g.41178784C>G | CA411684200 | EP300 | c.7073C>G (p.Pro2358Arg) c.6995C>G (p.Pro2332Arg) | |
| 22 | g.41178784C>T | CA411684201 | EP300 | c.7073C>T (p.Pro2358Leu) c.6995C>T (p.Pro2332Leu) | dbSNP gnomAD v4 COSMIC |
| 22 | g.41178785C>A | CA514794957 | EP300 | c.7074C>A (p.Pro2358=) c.6996C>A (p.Pro2332=) | |
| 22 | g.41178785C= | CA2406118784 | EP300 | c.7074C= (p.Pro2358=) c.6996C= (p.Pro2332=) | |
| 22 | g.41178785C>G | CA514794958 | EP300 | c.7074C>G (p.Pro2358=) c.6996C>G (p.Pro2332=) | |
| 22 | g.41178785C>T | CA10254027 | EP300 | c.7074C>T (p.Pro2358=) c.6996C>T (p.Pro2332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178786A= | CA2406118785 | EP300 | c.7075A= (p.Met2359=) c.6997A= (p.Met2333=) | |
| 22 | g.41178786A>C | CA411684205 | EP300 | c.7075A>C (p.Met2359Leu) c.6997A>C (p.Met2333Leu) | |
| 22 | g.41178786A>G | CA411684207 | EP300 | c.7075A>G (p.Met2359Val) c.6997A>G (p.Met2333Val) | dbSNP |
| 22 | g.41178786A>T | CA411684209 | EP300 | c.7075A>T (p.Met2359Leu) c.6997A>T (p.Met2333Leu) | |
| 22 | g.41178787T>A | CA411684210 | EP300 | c.7076T>A (p.Met2359Lys) c.6998T>A (p.Met2333Lys) | dbSNP |
| 22 | g.41178787T>C | CA411684212 | EP300 | c.7076T>C (p.Met2359Thr) c.6998T>C (p.Met2333Thr) | |
| 22 | g.41178787T>G | CA411684214 | EP300 | c.7076T>G (p.Met2359Arg) c.6998T>G (p.Met2333Arg) | |
| 22 | g.41178788G>A | CA411684216 | EP300 | c.7077G>A (p.Met2359Ile) c.6999G>A (p.Met2333Ile) | dbSNP |
| 22 | g.41178788G>C | CA411684217 | EP300 | c.7077G>C (p.Met2359Ile) c.6999G>C (p.Met2333Ile) | dbSNP |
| 22 | g.41178788G>T | CA411684219 | EP300 | c.7077G>T (p.Met2359Ile) c.6999G>T (p.Met2333Ile) | |
| 22 | g.41178789G>A | CA411684222 | EP300 | c.7078G>A (p.Glu2360Lys) c.7000G>A (p.Glu2334Lys) | |
| 22 | g.41178789G>C | CA411684223 | EP300 | c.7078G>C (p.Glu2360Gln) c.7000G>C (p.Glu2334Gln) | dbSNP |
| 22 | g.41178789G>T | CA411684225 | EP300 | c.7078G>T (p.Glu2360Ter) c.7000G>T (p.Glu2334Ter) | |
| 22 | g.41178790A= | CA2406118786 | EP300 | c.7079A= (p.Glu2360=) c.7001A= (p.Glu2334=) | |
| 22 | g.41178790A>C | CA411684228 | EP300 | c.7079A>C (p.Glu2360Ala) c.7001A>C (p.Glu2334Ala) | |
| 22 | g.41178790A>G | CA324520340 | EP300 | c.7079A>G (p.Glu2360Gly) c.7001A>G (p.Glu2334Gly) | dbSNP COSMIC |
| 22 | g.41178790A>T | CA411684230 | EP300 | c.7079A>T (p.Glu2360Val) c.7001A>T (p.Glu2334Val) | |
| 22 | g.41178791A= | CA2406118787 | EP300 | c.7080A= (p.Glu2360=) c.7002A= (p.Glu2334=) | |
| 22 | g.41178791A>C | CA411684233 | EP300 | c.7080A>C (p.Glu2360Asp) c.7002A>C (p.Glu2334Asp) | |
| 22 | g.41178791A>G | CA514794964 | EP300 | c.7080A>G (p.Glu2360=) c.7002A>G (p.Glu2334=) | dbSNP |
| 22 | g.41178791A>T | CA411684235 | EP300 | c.7080A>T (p.Glu2360Asp) c.7002A>T (p.Glu2334Asp) | |
| 22 | g.41178792C>A | CA411684237 | EP300 | c.7081C>A (p.Gln2361Lys) c.7003C>A (p.Gln2335Lys) | dbSNP |
| 22 | g.41178792C>G | CA411684239 | EP300 | c.7081C>G (p.Gln2361Glu) c.7003C>G (p.Gln2335Glu) | dbSNP |
| 22 | g.41178792C>T | CA411684241 | EP300 | c.7081C>T (p.Gln2361Ter) c.7003C>T (p.Gln2335Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178793A= | CA2406118788 | EP300 | c.7082A= (p.Gln2361=) c.7004A= (p.Gln2335=) | |
| 22 | g.41178793A>C | CA411684243 | EP300 | c.7082A>C (p.Gln2361Pro) c.7004A>C (p.Gln2335Pro) | |
| 22 | g.41178793A>G | CA411684244 | EP300 | c.7082A>G (p.Gln2361Arg) c.7004A>G (p.Gln2335Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178793A>T | CA411684247 | EP300 | c.7082A>T (p.Gln2361Leu) c.7004A>T (p.Gln2335Leu) | dbSNP gnomAD v4 |
| 22 | g.41178794A>C | CA411684249 | EP300 | c.7083A>C (p.Gln2361His) c.7005A>C (p.Gln2335His) | |
| 22 | g.41178794A>G | CA514794972 | EP300 | c.7083A>G (p.Gln2361=) c.7005A>G (p.Gln2335=) | |
| 22 | g.41178794A>T | CA411684250 | EP300 | c.7083A>T (p.Gln2361His) c.7005A>T (p.Gln2335His) | dbSNP |
| 22 | g.41178794_41178796dup | CA2580099853 | EP300 | c.7083_7085dup (p.Gly2362_His2363insGly) c.7005_7007dup (p.Gly2336_His2337insGly) | ClinVar |
| 22 | g.41178795G>A | CA411684256 | EP300 | c.7084G>A (p.Gly2362Arg) c.7006G>A (p.Gly2336Arg) | dbSNP |
| 22 | g.41178795G>C | CA411684254 | EP300 | c.7084G>C (p.Gly2362Arg) c.7006G>C (p.Gly2336Arg) | |
| 22 | g.41178795G>T | CA411684253 | EP300 | c.7084G>T (p.Gly2362Trp) c.7006G>T (p.Gly2336Trp) | |
| 22 | g.41178796G>A | CA411684259 | EP300 | c.7085G>A (p.Gly2362Glu) c.7007G>A (p.Gly2336Glu) | dbSNP |
| 22 | g.41178796G>C | CA411684261 | EP300 | c.7085G>C (p.Gly2362Ala) c.7007G>C (p.Gly2336Ala) | dbSNP |
| 22 | g.41178796G= | CA2406118789 | EP300 | c.7085G= (p.Gly2362=) c.7007G= (p.Gly2336=) | |
| 22 | g.41178796G>T | CA411684263 | EP300 | c.7085G>T (p.Gly2362Val) c.7007G>T (p.Gly2336Val) | |
| 22 | g.41178797G>A | CA10254028 | EP300 | c.7086G>A (p.Gly2362=) c.7008G>A (p.Gly2336=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178797G>C | CA514794973 | EP300 | c.7086G>C (p.Gly2362=) c.7008G>C (p.Gly2336=) | dbSNP |
| 22 | g.41178797G= | CA2406118790 | EP300 | c.7086G= (p.Gly2362=) c.7008G= (p.Gly2336=) | |
| 22 | g.41178797G>T | CA514794974 | EP300 | c.7086G>T (p.Gly2362=) c.7008G>T (p.Gly2336=) | dbSNP gnomAD v4 |
| 22 | g.41178798C>A | CA411684266 | EP300 | c.7087C>A (p.His2363Asn) c.7009C>A (p.His2337Asn) | dbSNP |
| 22 | g.41178798C= | CA2406118791 | EP300 | c.7087C= (p.His2363=) c.7009C= (p.His2337=) | |
| 22 | g.41178798C>G | CA411684268 | EP300 | c.7087C>G (p.His2363Asp) c.7009C>G (p.His2337Asp) | dbSNP |
| 22 | g.41178798C>T | CA411684270 | EP300 | c.7087C>T (p.His2363Tyr) c.7009C>T (p.His2337Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178799A= | CA2406118792 | EP300 | c.7088A= (p.His2363=) c.7010A= (p.His2337=) | |
| 22 | g.41178799A>C | CA411684272 | EP300 | c.7088A>C (p.His2363Pro) c.7010A>C (p.His2337Pro) | |
| 22 | g.41178799A>G | CA411684273 | EP300 | c.7088A>G (p.His2363Arg) c.7010A>G (p.His2337Arg) | dbSNP |
| 22 | g.41178799A>T | CA411684275 | EP300 | c.7088A>T (p.His2363Leu) c.7010A>T (p.His2337Leu) | |
| 22 | g.41178800T>A | CA411684277 | EP300 | c.7089T>A (p.His2363Gln) c.7011T>A (p.His2337Gln) | gnomAD v4 |
| 22 | g.41178800T>C | CA514794975 | EP300 | c.7089T>C (p.His2363=) c.7011T>C (p.His2337=) | gnomAD v4 |
| 22 | g.41178800T>G | CA411684278 | EP300 | c.7089T>G (p.His2363Gln) c.7011T>G (p.His2337Gln) | |
| 22 | g.41178803del | CA2737944124 | EP300 | c.7092del (p.Phe2364LeufsTer?) c.7014del (p.Phe2338LeufsTer?) | dbSNP |
| 22 | g.41178801T>A | CA411684283 | EP300 | c.7090T>A (p.Phe2364Ile) c.7012T>A (p.Phe2338Ile) | |
| 22 | g.41178801T>C | CA411684284 | EP300 | c.7090T>C (p.Phe2364Leu) c.7012T>C (p.Phe2338Leu) | |
| 22 | g.41178801T>G | CA411684281 | EP300 | c.7090T>G (p.Phe2364Val) c.7012T>G (p.Phe2338Val) | dbSNP |
| 22 | g.41178802T>A | CA411684287 | EP300 | c.7091T>A (p.Phe2364Tyr) c.7013T>A (p.Phe2338Tyr) | |
| 22 | g.41178802T>C | CA411684289 | EP300 | c.7091T>C (p.Phe2364Ser) c.7013T>C (p.Phe2338Ser) | dbSNP |
| 22 | g.41178802T>G | CA411684291 | EP300 | c.7091T>G (p.Phe2364Cys) c.7013T>G (p.Phe2338Cys) | |
| 22 | g.41178803T>A | CA411684293 | EP300 | c.7092T>A (p.Phe2364Leu) c.7014T>A (p.Phe2338Leu) | |
| 22 | g.41178803T>C | CA514794977 | EP300 | c.7092T>C (p.Phe2364=) c.7014T>C (p.Phe2338=) | gnomAD v4 |
| 22 | g.41178803T>G | CA411684294 | EP300 | c.7092T>G (p.Phe2364Leu) c.7014T>G (p.Phe2338Leu) | |
| 22 | g.41178804G>A | CA411684300 | EP300 | c.7093G>A (p.Ala2365Thr) c.7015G>A (p.Ala2339Thr) | gnomAD v4 |
| 22 | g.41178804G>C | CA411684299 | EP300 | c.7093G>C (p.Ala2365Pro) c.7015G>C (p.Ala2339Pro) | |
| 22 | g.41178804G>T | CA411684297 | EP300 | c.7093G>T (p.Ala2365Ser) c.7015G>T (p.Ala2339Ser) | |
| 22 | g.41178807_41178810del | CA2737944156 | EP300 | c.7096_7099del (p.Ser2366ArgfsTer?) c.7018_7021del (p.Ser2340ArgfsTer?) | dbSNP |
| 22 | g.41178805C>A | CA411684303 | EP300 | c.7094C>A (p.Ala2365Asp) c.7016C>A (p.Ala2339Asp) | dbSNP gnomAD v4 |
| 22 | g.41178805C= | CA2406118793 | EP300 | c.7094C= (p.Ala2365=) c.7016C= (p.Ala2339=) | |
| 22 | g.41178805C>G | CA411684304 | EP300 | c.7094C>G (p.Ala2365Gly) c.7016C>G (p.Ala2339Gly) | dbSNP |
| 22 | g.41178805C>T | CA411684306 | EP300 | c.7094C>T (p.Ala2365Val) c.7016C>T (p.Ala2339Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178806C>A | CA514794978 | EP300 | c.7095C>A (p.Ala2365=) c.7017C>A (p.Ala2339=) | |
| 22 | g.41178806C>G | CA514794979 | EP300 | c.7095C>G (p.Ala2365=) c.7017C>G (p.Ala2339=) | |
| 22 | g.41178806C>T | CA514794982 | EP300 | c.7095C>T (p.Ala2365=) c.7017C>T (p.Ala2339=) | dbSNP gnomAD v4 |
| 22 | g.41178807A>C | CA411684308 | EP300 | c.7096A>C (p.Ser2366Arg) c.7018A>C (p.Ser2340Arg) | |
| 22 | g.41178807A>G | CA411684310 | EP300 | c.7096A>G (p.Ser2366Gly) c.7018A>G (p.Ser2340Gly) | |
| 22 | g.41178807A>T | CA411684312 | EP300 | c.7096A>T (p.Ser2366Cys) c.7018A>T (p.Ser2340Cys) | dbSNP gnomAD v4 |
| 22 | g.41178807_41178808delinsAG | CA2406118794 | EP300 | c.7096_7097delinsAG (p.Ser2366=) c.7018_7019delinsAG (p.Ser2340=) | |
| 22 | g.41178808del | CA1139667127 | EP300 | c.7097del (p.Ser2366ThrfsTer?) c.7019del (p.Ser2340ThrfsTer?) | ClinVar dbSNP |
| 22 | g.41178808G>A | CA411684314 | EP300 | c.7097G>A (p.Ser2366Asn) c.7019G>A (p.Ser2340Asn) | dbSNP gnomAD v4 |
| 22 | g.41178808G>C | CA324520346 | EP300 | c.7097G>C (p.Ser2366Thr) c.7019G>C (p.Ser2340Thr) | dbSNP gnomAD v4 |
| 22 | g.41178808G= | CA2406118795 | EP300 | c.7097G= (p.Ser2366=) c.7019G= (p.Ser2340=) | |
| 22 | g.41178808G>T | CA411684317 | EP300 | c.7097G>T (p.Ser2366Ile) c.7019G>T (p.Ser2340Ile) | dbSNP gnomAD v4 |
| 22 | g.41178808_41178809delinsGC | CA2406118796 | EP300 | c.7097_7098delinsGC (p.Ser2366=) c.7019_7020delinsGC (p.Ser2340=) | |
| 22 | g.41178809C>A | CA411684321 | EP300 | c.7098C>A (p.Ser2366Arg) c.7020C>A (p.Ser2340Arg) | |
| 22 | g.41178809C= | CA2406118797 | EP300 | c.7098C= (p.Ser2366=) c.7020C= (p.Ser2340=) | |
| 22 | g.41178809C>G | CA411684324 | EP300 | c.7098C>G (p.Ser2366Arg) c.7020C>G (p.Ser2340Arg) | dbSNP |
| 22 | g.41178809C>T | CA514794985 | EP300 | c.7098C>T (p.Ser2366=) c.7020C>T (p.Ser2340=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41178811del | CA913189137 | EP300 | c.7100del (p.Pro2367ArgfsTer?) c.7022del (p.Pro2341ArgfsTer?) | ClinVar dbSNP |
| 22 | g.41178810C>A | CA411684327 | EP300 | c.7099C>A (p.Pro2367Thr) c.7021C>A (p.Pro2341Thr) | dbSNP |
| 22 | g.41178810C>G | CA411684330 | EP300 | c.7099C>G (p.Pro2367Ala) c.7021C>G (p.Pro2341Ala) | dbSNP |
| 22 | g.41178810C>T | CA411684333 | EP300 | c.7099C>T (p.Pro2367Ser) c.7021C>T (p.Pro2341Ser) | dbSNP |
| 22 | g.41178811C>A | CA411684335 | EP300 | c.7100C>A (p.Pro2367Gln) c.7022C>A (p.Pro2341Gln) | dbSNP |
| 22 | g.41178811C= | CA2406118798 | EP300 | c.7100C= (p.Pro2367=) c.7022C= (p.Pro2341=) | |
| 22 | g.41178811C>G | CA411684337 | EP300 | c.7100C>G (p.Pro2367Arg) c.7022C>G (p.Pro2341Arg) | dbSNP |
| 22 | g.41178811C>T | CA10254029 | EP300 | c.7100C>T (p.Pro2367Leu) c.7022C>T (p.Pro2341Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178812G>A | CA10254030 | EP300 | c.7101G>A (p.Pro2367=) c.7023G>A (p.Pro2341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178812G>C | CA514795037 | EP300 | c.7101G>C (p.Pro2367=) c.7023G>C (p.Pro2341=) | dbSNP |
| 22 | g.41178812G= | CA2406118799 | EP300 | c.7101G= (p.Pro2367=) c.7023G= (p.Pro2341=) | |
| 22 | g.41178812G>T | CA514795036 | EP300 | c.7101G>T (p.Pro2367=) c.7023G>T (p.Pro2341=) | gnomAD v4 |
| 22 | g.41178813G>A | CA411684344 | EP300 | c.7102G>A (p.Asp2368Asn) c.7024G>A (p.Asp2342Asn) | dbSNP COSMIC |
| 22 | g.41178813G>C | CA411684347 | EP300 | c.7102G>C (p.Asp2368His) c.7024G>C (p.Asp2342His) | dbSNP |
| 22 | g.41178813G= | CA2406118800 | EP300 | c.7102G= (p.Asp2368=) c.7024G= (p.Asp2342=) | |
| 22 | g.41178813G>T | CA411684349 | EP300 | c.7102G>T (p.Asp2368Tyr) c.7024G>T (p.Asp2342Tyr) | |
| 22 | g.41178814A>C | CA411684355 | EP300 | c.7103A>C (p.Asp2368Ala) c.7025A>C (p.Asp2342Ala) | gnomAD v4 |
| 22 | g.41178814A>G | CA411684359 | EP300 | c.7103A>G (p.Asp2368Gly) c.7025A>G (p.Asp2342Gly) | gnomAD v4 |
| 22 | g.41178814A>T | CA411684357 | EP300 | c.7103A>T (p.Asp2368Val) c.7025A>T (p.Asp2342Val) | |
| 22 | g.41178814_41178835dup | CA2656912656 | EP300 | c.7103_7124dup (p.Leu2376ProfsTer10) c.7025_7046dup (p.Leu2350ProfsTer10) | gnomAD v4 |
| 22 | g.41178815C>A | CA411684363 | EP300 | c.7104C>A (p.Asp2368Glu) c.7026C>A (p.Asp2342Glu) | dbSNP |
| 22 | g.41178815C= | CA2406118801 | EP300 | c.7104C= (p.Asp2368=) c.7026C= (p.Asp2342=) | |
| 22 | g.41178815C>G | CA411684366 | EP300 | c.7104C>G (p.Asp2368Glu) c.7026C>G (p.Asp2342Glu) | dbSNP gnomAD v4 |
| 22 | g.41178815C>T | CA514795038 | EP300 | c.7104C>T (p.Asp2368=) c.7026C>T (p.Asp2342=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178816del | CA2737944174 | EP300 | c.7105del (p.Gln2369ArgfsTer?) c.7027del (p.Gln2343ArgfsTer?) | dbSNP |
| 22 | g.41178816C>A | CA411684369 | EP300 | c.7105C>A (p.Gln2369Lys) c.7027C>A (p.Gln2343Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178816C= | CA2406118802 | EP300 | c.7105C= (p.Gln2369=) c.7027C= (p.Gln2343=) | |
| 22 | g.41178816C>G | CA411684371 | EP300 | c.7105C>G (p.Gln2369Glu) c.7027C>G (p.Gln2343Glu) | dbSNP |
| 22 | g.41178816C>T | CA411684374 | EP300 | c.7105C>T (p.Gln2369Ter) c.7027C>T (p.Gln2343Ter) | dbSNP |
| 22 | g.41178817A= | CA2406118803 | EP300 | c.7106A= (p.Gln2369=) c.7028A= (p.Gln2343=) | |
| 22 | g.41178817A>C | CA411684377 | EP300 | c.7106A>C (p.Gln2369Pro) c.7028A>C (p.Gln2343Pro) | |
| 22 | g.41178817A>G | CA10254031 | EP300 | c.7106A>G (p.Gln2369Arg) c.7028A>G (p.Gln2343Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178817A>T | CA411684381 | EP300 | c.7106A>T (p.Gln2369Leu) c.7028A>T (p.Gln2343Leu) | |
| 22 | g.41178818G>A | CA514795040 | EP300 | c.7107G>A (p.Gln2369=) c.7029G>A (p.Gln2343=) | gnomAD v4 |
| 22 | g.41178818G>C | CA411684385 | EP300 | c.7107G>C (p.Gln2369His) c.7029G>C (p.Gln2343His) | dbSNP |
| 22 | g.41178818G>T | CA411684387 | EP300 | c.7107G>T (p.Gln2369His) c.7029G>T (p.Gln2343His) | |
| 22 | g.41178819A>C | CA411684391 | EP300 | c.7108A>C (p.Asn2370His) c.7030A>C (p.Asn2344His) | |
| 22 | g.41178819A>G | CA411684393 | EP300 | c.7108A>G (p.Asn2370Asp) c.7030A>G (p.Asn2344Asp) | |
| 22 | g.41178819A>T | CA411684395 | EP300 | c.7108A>T (p.Asn2370Tyr) c.7030A>T (p.Asn2344Tyr) | dbSNP |
| 22 | g.41178820A= | CA2406118804 | EP300 | c.7109A= (p.Asn2370=) c.7031A= (p.Asn2344=) | |
| 22 | g.41178820A>C | CA411684402 | EP300 | c.7109A>C (p.Asn2370Thr) c.7031A>C (p.Asn2344Thr) | |
| 22 | g.41178820A>G | CA10254032 | EP300 | c.7109A>G (p.Asn2370Ser) c.7031A>G (p.Asn2344Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178820A>T | CA411684399 | EP300 | c.7109A>T (p.Asn2370Ile) c.7031A>T (p.Asn2344Ile) | dbSNP COSMIC |
| 22 | g.41178821T>A | CA411684405 | EP300 | c.7110T>A (p.Asn2370Lys) c.7032T>A (p.Asn2344Lys) | dbSNP |
| 22 | g.41178821T>C | CA514795045 | EP300 | c.7110T>C (p.Asn2370=) c.7032T>C (p.Asn2344=) | |
| 22 | g.41178821T>G | CA411684408 | EP300 | c.7110T>G (p.Asn2370Lys) c.7032T>G (p.Asn2344Lys) | |
| 22 | g.41178822T>A | CA411684412 | EP300 | c.7111T>A (p.Ser2371Thr) c.7033T>A (p.Ser2345Thr) | ClinVar dbSNP |
| 22 | g.41178822T>C | CA411684413 | EP300 | c.7111T>C (p.Ser2371Pro) c.7033T>C (p.Ser2345Pro) | |
| 22 | g.41178822T>G | CA411684415 | EP300 | c.7111T>G (p.Ser2371Ala) c.7033T>G (p.Ser2345Ala) | |
| 22 | g.41178822T= | CA2406118805 | EP300 | c.7111T= (p.Ser2371=) c.7033T= (p.Ser2345=) | |
| 22 | g.41178823C>A | CA411684418 | EP300 | c.7112C>A (p.Ser2371Ter) c.7034C>A (p.Ser2345Ter) | dbSNP |
| 22 | g.41178823C= | CA2406118806 | EP300 | c.7112C= (p.Ser2371=) c.7034C= (p.Ser2345=) | |
| 22 | g.41178823C>G | CA411684421 | EP300 | c.7112C>G (p.Ser2371Ter) c.7034C>G (p.Ser2345Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178823C>T | CA10254033 | EP300 | c.7112C>T (p.Ser2371Leu) c.7034C>T (p.Ser2345Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178824A>C | CA514795049 | EP300 | c.7113A>C (p.Ser2371=) c.7035A>C (p.Ser2345=) | |
| 22 | g.41178824A>G | CA514795050 | EP300 | c.7113A>G (p.Ser2371=) c.7035A>G (p.Ser2345=) | |
| 22 | g.41178824A>T | CA514795051 | EP300 | c.7113A>T (p.Ser2371=) c.7035A>T (p.Ser2345=) | dbSNP |
| 22 | g.41178825A= | CA2406118807 | EP300 | c.7114A= (p.Met2372=) c.7036A= (p.Met2346=) | |
| 22 | g.41178825A>C | CA411684426 | EP300 | c.7114A>C (p.Met2372Leu) c.7036A>C (p.Met2346Leu) | gnomAD v4 |
| 22 | g.41178825A>G | CA10254034 | EP300 | c.7114A>G (p.Met2372Val) c.7036A>G (p.Met2346Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.41178825A>T | CA411684430 | EP300 | c.7114A>T (p.Met2372Leu) c.7036A>T (p.Met2346Leu) | |
| 22 | g.41178825_41178826insGTCTGAG | CA2737944190 | EP300 | c.7114_7115insGTCTGAG (p.Met2372SerfsTer9) c.7036_7037insGTCTGAG (p.Met2346SerfsTer9) | dbSNP |
| 22 | g.41178826T>A | CA411684439 | EP300 | c.7115T>A (p.Met2372Lys) c.7037T>A (p.Met2346Lys) | dbSNP |
| 22 | g.41178826T>C | CA411684436 | EP300 | c.7115T>C (p.Met2372Thr) c.7037T>C (p.Met2346Thr) | dbSNP |
| 22 | g.41178826T>G | CA411684434 | EP300 | c.7115T>G (p.Met2372Arg) c.7037T>G (p.Met2346Arg) | |
| 22 | g.41178827G>A | CA411684442 | EP300 | c.7116G>A (p.Met2372Ile) c.7038G>A (p.Met2346Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178827G>C | CA411684448 | EP300 | c.7116G>C (p.Met2372Ile) c.7038G>C (p.Met2346Ile) | dbSNP |
| 22 | g.41178827G= | CA2406118808 | EP300 | c.7116G= (p.Met2372=) c.7038G= (p.Met2346=) | |
| 22 | g.41178827G>T | CA411684444 | EP300 | c.7116G>T (p.Met2372Ile) c.7038G>T (p.Met2346Ile) | dbSNP |
| 22 | g.41178828C>A | CA411684452 | EP300 | c.7117C>A (p.Leu2373Ile) c.7039C>A (p.Leu2347Ile) | dbSNP |
| 22 | g.41178828C= | CA2406118809 | EP300 | c.7117C= (p.Leu2373=) c.7039C= (p.Leu2347=) | |
| 22 | g.41178828C>G | CA411684456 | EP300 | c.7117C>G (p.Leu2373Val) c.7039C>G (p.Leu2347Val) | dbSNP |
| 22 | g.41178828C>T | CA411684453 | EP300 | c.7117C>T (p.Leu2373Phe) c.7039C>T (p.Leu2347Phe) | dbSNP gnomAD v4 |
| 22 | g.41178829T>A | CA411684461 | EP300 | c.7118T>A (p.Leu2373His) c.7040T>A (p.Leu2347His) | |
| 22 | g.41178829T>C | CA411684464 | EP300 | c.7118T>C (p.Leu2373Pro) c.7040T>C (p.Leu2347Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178829T>G | CA411684467 | EP300 | c.7118T>G (p.Leu2373Arg) c.7040T>G (p.Leu2347Arg) | |
| 22 | g.41178829T= | CA2406118810 | EP300 | c.7118T= (p.Leu2373=) c.7040T= (p.Leu2347=) | |
| 22 | g.41178830T>A | CA514795056 | EP300 | c.7119T>A (p.Leu2373=) c.7041T>A (p.Leu2347=) | |
| 22 | g.41178830T>C | CA10254035 | EP300 | c.7119T>C (p.Leu2373=) c.7041T>C (p.Leu2347=) | dbSNP ExAC gnomAD v2 |
| 22 | g.41178830T>G | CA514795057 | EP300 | c.7119T>G (p.Leu2373=) c.7041T>G (p.Leu2347=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.41178830T= | CA2406118811 | EP300 | c.7119T= (p.Leu2373=) c.7041T= (p.Leu2347=) | |
| 22 | g.41178831T>A | CA411684473 | EP300 | c.7120T>A (p.Ser2374Thr) c.7042T>A (p.Ser2348Thr) | dbSNP |
| 22 | g.41178831T>C | CA411684475 | EP300 | c.7120T>C (p.Ser2374Pro) c.7042T>C (p.Ser2348Pro) | gnomAD v4 |
| 22 | g.41178831T>G | CA10254036 | EP300 | c.7120T>G (p.Ser2374Ala) c.7042T>G (p.Ser2348Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178831T= | CA2406118812 | EP300 | c.7120T= (p.Ser2374=) c.7042T= (p.Ser2348=) | |
| 22 | g.41178832C>A | CA411684478 | EP300 | c.7121C>A (p.Ser2374Tyr) c.7043C>A (p.Ser2348Tyr) | dbSNP COSMIC |
| 22 | g.41178832C>G | CA411684479 | EP300 | c.7121C>G (p.Ser2374Cys) c.7043C>G (p.Ser2348Cys) | dbSNP |
| 22 | g.41178832C>T | CA411684481 | EP300 | c.7121C>T (p.Ser2374Phe) c.7043C>T (p.Ser2348Phe) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.41178833T>A | CA514795059 | EP300 | c.7122T>A (p.Ser2374=) c.7044T>A (p.Ser2348=) | |
| 22 | g.41178833T>C | CA514795060 | EP300 | c.7122T>C (p.Ser2374=) c.7044T>C (p.Ser2348=) | gnomAD v4 |
| 22 | g.41178833T>G | CA514795061 | EP300 | c.7122T>G (p.Ser2374=) c.7044T>G (p.Ser2348=) | |
| 22 | g.41178834C>A | CA411684487 | EP300 | c.7123C>A (p.Gln2375Lys) c.7045C>A (p.Gln2349Lys) | |
| 22 | g.41178834C>G | CA411684485 | EP300 | c.7123C>G (p.Gln2375Glu) c.7045C>G (p.Gln2349Glu) | dbSNP |
| 22 | g.41178834C>T | CA411684483 | EP300 | c.7123C>T (p.Gln2375Ter) c.7045C>T (p.Gln2349Ter) | dbSNP |
| 22 | g.41178835A>C | CA411684489 | EP300 | c.7124A>C (p.Gln2375Pro) c.7046A>C (p.Gln2349Pro) | gnomAD v4 |
| 22 | g.41178835A>G | CA411684491 | EP300 | c.7124A>G (p.Gln2375Arg) c.7046A>G (p.Gln2349Arg) | dbSNP |
| 22 | g.41178835A>T | CA411684492 | EP300 | c.7124A>T (p.Gln2375Leu) c.7046A>T (p.Gln2349Leu) | dbSNP |
| 22 | g.41178836G>A | CA514795065 | EP300 | c.7125G>A (p.Gln2375=) c.7047G>A (p.Gln2349=) | gnomAD v4 |
| 22 | g.41178836G>C | CA324520359 | EP300 | c.7125G>C (p.Gln2375His) c.7047G>C (p.Gln2349His) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178836G= | CA2406118813 | EP300 | c.7125G= (p.Gln2375=) c.7047G= (p.Gln2349=) | |
| 22 | g.41178836G>T | CA411684494 | EP300 | c.7125G>T (p.Gln2375His) c.7047G>T (p.Gln2349His) | |
| 22 | g.41178837C>A | CA411684497 | EP300 | c.7126C>A (p.Leu2376Ile) c.7048C>A (p.Leu2350Ile) | COSMIC |
| 22 | g.41178837C= | CA2406118814 | EP300 | c.7126C= (p.Leu2376=) c.7048C= (p.Leu2350=) | |
| 22 | g.41178837C>G | CA411684498 | EP300 | c.7126C>G (p.Leu2376Val) c.7048C>G (p.Leu2350Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178837C>T | CA411684502 | EP300 | c.7126C>T (p.Leu2376Phe) c.7048C>T (p.Leu2350Phe) | dbSNP |
| 22 | g.41178838T>A | CA411684503 | EP300 | c.7127T>A (p.Leu2376His) c.7049T>A (p.Leu2350His) | dbSNP |
| 22 | g.41178838T>C | CA10254037 | EP300 | c.7127T>C (p.Leu2376Pro) c.7049T>C (p.Leu2350Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178838T>G | CA411684506 | EP300 | c.7127T>G (p.Leu2376Arg) c.7049T>G (p.Leu2350Arg) | |
| 22 | g.41178838T= | CA2406118815 | EP300 | c.7127T= (p.Leu2376=) c.7049T= (p.Leu2350=) | |
| 22 | g.41178839T>A | CA514795071 | EP300 | c.7128T>A (p.Leu2376=) c.7050T>A (p.Leu2350=) | gnomAD v4 |
| 22 | g.41178839T>C | CA514795069 | EP300 | c.7128T>C (p.Leu2376=) c.7050T>C (p.Leu2350=) | gnomAD v4 |
| 22 | g.41178839T>G | CA514795070 | EP300 | c.7128T>G (p.Leu2376=) c.7050T>G (p.Leu2350=) | |
| 22 | g.41178840G>A | CA411684511 | EP300 | c.7129G>A (p.Ala2377Thr) c.7051G>A (p.Ala2351Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.41178840G>C | CA411684510 | EP300 | c.7129G>C (p.Ala2377Pro) c.7051G>C (p.Ala2351Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.41178840G= | CA2406118816 | EP300 | c.7129G= (p.Ala2377=) c.7051G= (p.Ala2351=) | |
| 22 | g.41178840G>T | CA411684508 | EP300 | c.7129G>T (p.Ala2377Ser) c.7051G>T (p.Ala2351Ser) | |
| 22 | g.41178841C>A | CA411684513 | EP300 | c.7130C>A (p.Ala2377Asp) c.7052C>A (p.Ala2351Asp) | |
| 22 | g.41178841C>G | CA411684514 | EP300 | c.7130C>G (p.Ala2377Gly) c.7052C>G (p.Ala2351Gly) | dbSNP |
| 22 | g.41178841C>T | CA411684515 | EP300 | c.7130C>T (p.Ala2377Val) c.7052C>T (p.Ala2351Val) | dbSNP gnomAD v4 |
| 22 | g.41178842T>A | CA514795074 | EP300 | c.7131T>A (p.Ala2377=) c.7053T>A (p.Ala2351=) | |
| 22 | g.41178842T>C | CA514795075 | EP300 | c.7131T>C (p.Ala2377=) c.7053T>C (p.Ala2351=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.41178842T>G | CA514795076 | EP300 | c.7131T>G (p.Ala2377=) c.7053T>G (p.Ala2351=) | |
| 22 | g.41178842T= | CA2406118817 | EP300 | c.7131T= (p.Ala2377=) c.7053T= (p.Ala2351=) | |
| 22 | g.41178842dup | CA2697552784 | EP300 | c.7131dup (p.Ser2378Ter) c.7053dup (p.Ser2352Ter) | ClinVar |