Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
IVD P26440 isovaleryl-CoA dehydrogenase Enzyme 1.5E-14 0.705 0.462