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. Author manuscript; available in PMC: 2019 Sep 1.
Published in final edited form as: Hum Genet. 2018 Jul 26;137(9):689–703. doi: 10.1007/s00439-018-1907-y

Table 1.

List of variants identified as pathogenic/likely pathogenic in this study.

Gene Nucleotide Change Protein Change Zygosity MAF in ExAC/gnomAD MAF in
Turkish db.		 CADD GERP
TSPEAR c.1726_1728delGTCinsTT (a.k.a. c.[1726G>T; 1728delC]) p.Val576Leufs*38 Hom 2.5×10−5/2.8×10−5 1.1×10−3 NA NA
c.1877T>C p.Phe626Ser Hom 1.2×10−4/1.5×10−4 1.6×10−3 32 4.33
LAMB3 c.547C>T p.Arg183Cys Hom 5.1×10−4/4.7×10−4 4.5×10−3 26.4 4.57
BCOR c.1651G>A p.Asp551Asn Het 1.4×10−4/0.95×10−4 NA 11.74 5.6
WNT10A c.682T>A p.Phe228Ile Hom 0.011/0.01 0.022 6.68 4.46

Abbreviations: Het, heterozygous; Hom, homozygous; MAF, minor allele frequency; db, database.

1

The number of homozygotes is 14.

2

The number of homozygotes is 8.