EP300.md
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| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
40 40
| :---:| :---: | :--: | :---: |
41
-| chr22 | 41566478 | C>T | P1452L |
42
-| chr22 | 41566522 | T>A | Y1467N |
43
-| chr22 | 41566522 | T>C | Y1467H |
44
-| chr22 | 41566522 | T>G | Y1467D |
45
-| chr22 | 41566523 | A>G | Y1467C |
46
-| chr22 | 41566523 | A>T | Y1467F |
41
+|chr22|41566459|T>C|Y1446H|
42
+|chr22|41566460|A>G|Y1446C|
43
+|chr22|41566460|A>C|Y1446S|
44
+|chr22|41566462|A>T|I1447F|
45
+|chr22|41566466|T>G|F1448C|
46
+|chr22|41566474|C>T|H1451Y|
47
+|chr22|41566476|T>G|H1451Q|
48
+|chr22|41566478 | C>T | P1452L |
49
+|chr22|41566486|C>G|Q1455E|
50
+|chr22|41566487|A>G|Q1455R|
51
+|chr22|41566488|G>T|Q1455H|
52
+|chr22|41566495|C>T|P1458S|
53
+|chr22|41566495|C>A|P1458T|
54
+|chr22|41566496|C>T|P1458L|
55
+|chr22|41566511|T>C|L1463P|
56
+|chr22|41566511|T>G|L1463R|
57
+|chr22|41566519|T>G|W1466G|
58
+|chr22|41566519|T>A|W1466R|
59
+|chr22|41566519|T>C|W1466R|
60
+|chr22|41566520|G>T|W1466L|
61
+|chr22|41566521|G>C|W1466C|
62
+|chr22| 41566522 | T>A | Y1467N |
63
+|chr22| 41566522 | T>C | Y1467H |
64
+|chr22| 41566522 | T>G | Y1467D |
65
+|chr22| 41566523 | A>G | Y1467C |
66
+|chr22| 41566523 | A>T | Y1467F |
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EP300_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EP300_protein_hg38.html)
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