Table 3: Summary of the new SNV results of the molecular screening of WS-related genes, including location of mutations, pathogenicity predictions, and population data.

Subject IDWS typeChromosome locationGeneMutationProtein mutationPathogenicity predictionPopulation frequencyInheritance status
SIFT_predPolyphen2_HVAR_predPolyphen2_HDIV_predMutationTaster_predCADD13_PHRED1000g_EASExAC_EASesp6500si_all

492Chr2(q36.1)PAX3c.808C>Gp.R270GNADNA.D32Novel
512Chr2(q36.1)PAX3c.117C>Ap.N39KTDDD25.9Novel
1091Chr2(q36.1)PAX3c.808C>Gp.R270GDDBD32Novel
1121Chr2(q36.1)PAX3c.152T>Gp.L51RDDDD29.5De novo
65,661Chr2(q36.1)PAX3c.793-3T>GNANANANAD12.22Novel
113,1141Chr2(q36.1)PAX3c.803G>Tp.S268IDDDD33De novo
113,1141Chr2(q36.1)PAX3c.801delTp. F267Lfs17TNAPNANADe novo
7,82Chr3(P13)MITFc.642_650delAAGNANANANANANADe novo
204Chr22(q13.1)SOX10c.122G>Tp.G41VTBBD15.90.01090.00820.000077De novo
1024Chr22(q13.1)SOX10c.127C>Tp.R43XDNABA35De novo
762Chr22(q13.1)SOX10c.122G>Tp.G41VDBDD15.90.01090.00820.000077De novo
762Chr8(q11..21)SNAI2c.230C>Gp. S77CDBPD21.30.0040.0045De novo
172Chr8(q11..21)SNAI2c.365C>Tp.A122VDPDD25.20.0010.0015De novo
851Chr13(q22..3)EDNRBc.481A>Gp.K161ETPBD23.3De novo
921Chr13(q22..3)EDNRBc.1018C>Gp.H340DDDDD32De novo
1111Chr13(q22..3)EDNRBc.1015C>Tp.L339FTDDD23.2De novo

Novel refers to variants that were absent in 200 control subjects; de novo refers to variants that were absent in the parents and 200 control subjects. “NA” means “not applicable.” “—” means none. SIFT D: deleterious (); T: tolerated (). Polyphen2_HVAR D: probably damaging (≥0.909); P: possibly damaging (); B: benign (). Polyphen2_HDIV_pred D: probably damaging (≥0.957); P: possibly damaging (); B: benign (). MutationTaster_pred A: disease_causing_automatic; D: disease_causing; N: polymorphism; P: polymorphism_automatic. CADD13_PHRED D: ; InDel is not applicable. “EAS” means East Asian populations.