0, SM:0.                                                                                                                           F: familial case, S:sporadic case.  N: non-reported, R: reported.  MM: missense mutations, NM: nonsense mutations, FM: frameshift/in-frame mutations, SM: splicing site mutations.  \* The the Leiden Open (source) Variation Database which was available at <http://chromium.liacs.nl/lovd/.>  