Copy number amplification
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Gain-of-Function
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Amplification
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- SVTYPE = "CNV"
- FILTER = "GAIN"
- Occurs in a designated copy-gain gene
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Loss-of-function truncating de novo mutation
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Loss-of-Function
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Truncating
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- Positive mutation call
- Functional impact is frameshift block substitution, frameshift deletion, frameshift insertion, or nonsense
- Occurs in a de-novo calling gene
- Meets de-novo thresholds
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Missense hotspot mutation
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Gain-of-Function
Loss-of-Function
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Hotspot
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In-frame hotspot mutation
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Gain-of-Function
Loss-of-Function
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Hotspot
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