Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CPT2 P23786 carnitine palmitoyltransferase 2 Enzyme 4.6E-10 0.542 0.769
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654