THPO and Thrombocytopenia: According to the ACMG guidelines, the germline variant THPO:c.388_389delAG, p. Arg30Gly frameshift observed in patient 1 was classified as a pathogenic variant by PVS1 (frameshift), PM2 (east Asian allele frequency 0.011%), and PP4 (thrombocytopenia phenotype for the THPO gene), and the other listed gene variants were classified as VUS (variants of uncertain significance).