Table 2.

The characteristics of the discovered IGD rare sequencing variants.

Gene	Change	Functional effect	PP	Pathogenicity	MAF in ExAC browse non-Finnish Europeans	No of probands	Dx
CHD7	c.8962 8963insG p.D2988GfsX2	Frameshift	NA	Deleterious	Not seen	1	nIHH
CHD7	c.5051-4C>T	Splice site	NA	Deleterious	Not seen	1	KS
CHD7	c.101 8A>G p.M340V	Missense	0/4	Benign	0.0063	2	nIHH, KS
CHD7	c.7579A>C p.M2527L	Missense	0/4	Benign	0.0031	2	nIHH
FGFR1	c.760C>T p.R254W	Missense	3/4	Likely deleterious	Not seen	1	KS
FGFR1	c.1408C>T p.R470C	Missense	2/4	Likely deleterious	0.000015	1	nIHH
SPRY4	c.46G>A p.V16I	Missense	1/4	Likely benign	0.0002462	1	KS
GNRHR	c.436C>T p.P146S	Missense	3/4	Likely deleterious	0.0011	1	nIHH
GNRHR	c 317A>G p Q106R	Missense	3/4	Likely deleterious	0.003	2	nIHH
GNRHR	c.785G>A p.R262Q	Missense	3/4	Likely deleterious	0.002	1	nIHH
GNRHR	c.1-8G>A	Frameshift	NA	Deleterious	Not seen	1	nIHH
KISS1R	c.458C>T p.R153C	Missense	1/4	Likely benign	Not seen	1	KS
PROKR2	c.254G>A p.R85H	Missense	1/4	Likely benign	0.0011	1	KS
PROKR2	c.1069C>T p.R357W	Missense	3/4	Likely deleterious	0.00089	1	nIHH
TACR3	c.1305T>A p.S435R	Missense	1/4	Likely benign	0.000029	1	nIHH
ANOS1	Possible deletion from KAL1 exon1 through Xp22.31	Intragenic deletion	NA	Deleterious	NA	2	KS
ANOS1	c.550delC p.L184*	Nonsense	NA	Deleterious	Not seen	1	KS
ANOS1	c.1 532C>A p.S511Y	Missense	0/4	Benign	0.0024	1	KS
KL	c.860G>A p.R287H	Missense	3/4	Likely deleterious	0.00001648	1	KS
POLR3A	c.3734G>A p.R1245Q	Missense	0/4	Benign	0.00283	1	KS
DMXL2	c.31 04C>G p.P1035R	Missense	0/4	Benign	0.00004946	1	KS
DMXL2	c.1787C>G p.S596C	Missense	1/4	Likely benign	0.0003747	1	KS
PNPLA6	c.851 859delinsACCGTGT p.S284YfsX56	Frameshift	NA	Deleterious	Not seen	1	KS
POLR3B	c.1958A>T p.D653V	Missense	1/4	Likely benign	0.006968	1	nIHH
POLR3B	c.3358A>G p.M1120V	Missense	3/4	Likely deleterious	0.000008238	1	KS
RNF216	c.1 06G>A p.D36N	Missense	2/4	Likely deleterious	Not seen	1	nIHH
SPRY4	c.46G>A p.V16I	Missense	1/4	Likely benign	0.0002822	1	KS
SOX2	c. 750 C>A p S250T	Missense	4/4	Deleterious	Not seen	1	KS
SOX2	c. 297 C>A pA99G	Missense	4/4	Deleterious	0.000008347	1	nIHH
SEMA3A	c.1 457C>T p.P486L	Missense	2/4	Likely deleterious	0.00006603	1	KS

Table 2 shows the characteristics of the detected RSVs including the genomic changes, function effect, number of prediction programs that consider the changes deleterious, pathogenicity, MAF in ExAC, number of probands carrying the diagnosis and associated diagnosis.