8d3a3350dc11e5950d119b23dc34a14664d87f15
EZH2.md
| ... | ... | @@ -33,6 +33,17 @@ |
| 33 | 33 | > First described in BL in 2012 by [Love C](https://pubmed.ncbi.nlm.nih.gov/23143597). First described in DLBCL in 2010 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/20081860). First described in FL in 2010 by [Morin RD](https://pubmed.ncbi.nlm.nih.gov/20081860) |
| 34 | 34 | |
| 35 | 35 | |
| 36 | + ## EZH2 Hotspots |
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| 37 | + |
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| 38 | +| Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
|
| 39 | + | :---:| :---: | :--: | :---: | |
|
| 40 | +| chr7 | 148508745 | T>C | N640S | |
|
| 41 | +| chr7 | 148508728 | A>T | Y646N | |
|
| 42 | +| chr7 | 148508728 | A>G | Y646H | |
|
| 43 | +| chr7 | 148508727 | T>G | Y646S | |
|
| 44 | +| chr7 | 148508727 | T>C | Y646C | |
|
| 45 | +| chr7 | 148508727 | T>A | Y646F | |
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| 46 | + |
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| 36 | 47 | View coding variants in ProteinPaint [hg19](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EZH2_protein.html) or [hg38](https://www.bcgsc.ca/downloads/morinlab/GAMBL/test/genes/EZH2_protein_hg38.html) |
| 37 | 48 | |
| 38 | 49 |  |