Case Report
Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency
Table 2
Result of WES showing the defect of the SP110.
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Variant description based on Alamut Batch 1.7 (latest database available). Align-GVD: C0: least likely to interfere with function; C65: most likely to interfere with function; splice prediction tools: SSF, MaxEnt, and HSF. Exome Aggregation Consortium (ExAC) database, Exome Sequencing Project (ESP), 1000Genome project (1000G), and CentoMD 4.0. Based on ACMG recommendations. |