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. Author manuscript; available in PMC: 2022 Jul 1.
Published in final edited form as: J Allergy Clin Immunol. 2021 Jan 22;148(1):256–261.e2. doi: 10.1016/j.jaci.2020.12.629

Table 2.

Rare homozygous variants in Pt. 1, identified by WGS using a recessive model of disease inheritance from a consanguineous family.

Gene Chr Exon Ref Alt DNA change Protein Change Worst Annotation
RNF223 1:1007306 Exon 2/2 G A c.641 C>T p.Pro214Leu missense
RNF223 1:1007730 Exon 2/2 C T c.217G>A p.Val73Ile missense
ATPSCKMT (FAM173B) 5:10239295 Exon 2/5 G A c.190C>T p.Arg64Ter nonsense
TRAF3IP2 6:111912731 Exon 2/9 G A c.559C>T p.Arg187Ter nonsense
TBC1D32 6:121602737 Exon 14/32 T C c.1561A>G p.Ile521 Val missense
THEMIS 6:128040861 Exon 6/7 CCTTT C c.1979_1982delAAAG p.Glu621GlyfsTer9 frameshift/stop
USPL1 13:31195297 Exon 2/9 T C c.20T>C p.Ile7Thr missense
HHIPL1 14:100118886 Exon 2/8 G A c.581 G>A p.Arg194His missense
GPR132 14:105517528 Exon 3/3 G A c.946C>T p.Arg316Cys missense
MYBPC2 19:50939323 Exon 4/28 C T c.251 C>T p.Pro84Leu missense
MYBPC2 19:50946971 Exon 11/28 C T c.1031 C>T p.Pro344Leu missense
POLA1 X:24757653 Exon 20/37 A G c.2184A>G p.Ile728Met missense
WNK3 X:54278026 Exon 14/24 T A c.2462A>T p.His821 Leu missense
THOC2 X:122747528 Exon 35/39 G A c.4481 C>T p.Pro1494Leu missense
Gene Exac Freq. Patient Dad Mom Brother OMIM
RNF223 0.00186776 G/A G/A > G/G G/G none
RNF223 0 C/T C/C C/T C/T none
ATPSCKMT (FAM173B) 0.00026499 A/A G/A G/A G/A none
TRAF3IP2 8.28E-06 A/A G/A G/A G/G 615527, familial Candidiasis
TBC1D32 0.00018284 C/C T/C T/C T/T none
THEMIS C/C CC TTT/C CCTTT/C CCTTT/C none
USPL1 0.00094032 C/C T/C T/C T/C none
HHIPL1 0.00062418 A/A G/A G/A G/A none
GPR132 0.00010728 A/A G/A G/A G/G none
MYBPC2 0.00011153 C/T C/C C/T C/T none
MYBPC2 7.46E-05 C/T C/T C/C C/C none
POLA1 0 G/G A/A A/G A/A 301220,301030 Van Esch-O’Driscoll syndrome
WNK3 0 A/A T/T T/A T/T none
THOC2 0 A/A G/G G/A G/G 300957, Mental Retardation- X linked