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Predicted null variant in genes where LOF is a known mechanism of the disease.
| Gene | AA Change | Variant Type | dbSNP | Diagnostic Group (Number of Carriers) | Previously Associated Diseases (LOF Mechanism) |
|---|---|---|---|---|---|
| PPT1 | p.R48X | LOF | - | AD (1) | NCL [30,31] |
| SORL1 | p.R985X | LOF | rs372188860 | AD (1) | AD [26,27,28,29] |
| p.R1207X | LOF | rs774626685 | AD (1) |
AA, amino acid; LOF, loss of function variant; dbSNP, database of single nucleotide polymorphism; NCL, neuronal ceroid lipofuscinosis.
