EEF1A1.md
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@@ -30,10 +30,18 @@ Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongatio
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## EEF1A1 Hotspots
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| Chromosome |Coordinate (hg19) | ref>alt | HGVSp |
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- | :---:| :---: | :--: | :---: |
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+| :---:| :---: | :--: | :---: |
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+|chr6|74229191|C>T|A65T|
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+|chr6|74229191|C>G|A65P|
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+|chr6|74229190|G>C|A65G|
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+|chr6|74229188|C>T|E66K|
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+|chr6|74229187|T>A|E66V|
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+|chr6|74229179|G>C|R69G|
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+|chr6|74229179|G>A|R69C|
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| chr6 | 74229094 | T>A | D97V |
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| chr6 | 74229095 | C>T | D97N |
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+
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/EEF1A1_protein_hg38.html)
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![image](images/proteinpaint/EEF1A1_NM_001402.svg)