e9b495bf40f5af0802427b309c768260352dd724
EZH2.md
| ... | ... | @@ -39,11 +39,16 @@ |
| 39 | 39 | | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
| 40 | 40 | | :---:| :---: | :--: | :---: | |
| 41 | 41 | | chr7 | 148508745 | T>C | N640S | |
| 42 | +|chr7|148508740|A>G|F642L| |
|
| 42 | 43 | | chr7 | 148508728 | A>T | Y646N | |
| 43 | 44 | | chr7 | 148508728 | A>G | Y646H | |
| 44 | 45 | | chr7 | 148508727 | T>G | Y646S | |
| 45 | 46 | | chr7 | 148508727 | T>C | Y646C | |
| 46 | 47 | | chr7 | 148508727 | T>A | Y646F | |
| 48 | +|chr7|148506466|TG>GC|A682G| |
|
| 49 | +|chr7|148506467|G>C|A682G| |
|
| 50 | +|chr7|148506437|GC>AA|A692L| |
|
| 51 | +|chr7|148506437|G>A|A692V| |
|
| 47 | 52 | |
| 48 | 53 | View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EZH2_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EZH2_protein_hg38.html) |
| 49 | 54 |