Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DIPK1A Q5T7M9 divergent protein kinase domain 1A 0.58 0.743 0.423
RPL5 P46777 ribosomal protein L5 Nucleic acid binding 1.00 0.617 0.615
NBN O60934 nibrin Nucleic acid binding 2.2E-16 0.467 0.808
SBDS Q9Y3A5 SBDS ribosome maturation factor Enzyme 6.2E-05 0.601 0.692
PRF1 P14222 perforin 1 5.5E-06 0.540 0.692