HGVS Mutalyzer Differences

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Loes Werkman edited this page Jan 28, 2022 · 2 revisions

Please note Mutalyzer is not perfect. Mutalyzer does not yet accept correct HGVS descriptions:

that use uncertain positions, like g.(123456_234567)_(345678_456789)del;
that give information on methylation, like g.123456|gom or g.123456|met=.