Table 1: All data for family cases.

Family ID123456789101112131415161718

Subject ID2.3.14.15.17.18.19.20.21.23.24.25.26.27.28.29.31.32.34.35.38.39.40.41.42.43.45.46.49.50.51.52.53.54.58.59.60.61.62.63.64.65.66.67.68.
GenePAX3SOX10SOX10SOX10MITFMITFNAPAX3PAX3MITFNAPAX3PAX3PAX3NAMITFPAX3EDNRBMITF
Mutationc.238C>Gc.743_744delAGc.254G>Ac.122G>Tc.763C>Tc.328 C>Tc.784C>Tc.232G>Ac.944_946delc.808C>Gc.117C>Ac.452-2A>Gc.1013+1G>Ac.793-3T>Gc.469A>Gc.1022_1023delTC
Protein mutationp.H80Dp. E248Afs32p.W85p.G41Vp. R255p.R110p.R262p.V78MNA,p.R270Gp.N39KNANAp.I157Vp.L341Rfs18

NA in gene: the molecular etiology of cases that remained unexplained. NA in protein mutation: protein changes that cannot be described.