Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POLR2F P61218 RNA polymerase II subunit F Enzyme 1.3E-02 0.722 0.308
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SMCHD1 A6NHR9 structural maintenance of chromosomes flexible hinge domain containing 1 1.00 0.631 0.615
ANOS1 P23352 anosmin 1 1.00 0.537 0.769