Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
PGAP2 Q9UHJ9 post-GPI attachment to proteins 2 Enzyme modulator 0.93 0.633 0.615