Table 2 All novel and rare genetic variants detect in the 22 genes.

Gene	Mutated case	CDS	Amino Acid change	zygosity	rsID	MAF	SIFT	Polyphen2	MutationTaster	ExAc
DNAH5 (NM_001369)	5032	c.13364C > A	p. Gly4455Asp	Het	rs370684795	0.0002	D	D	D	0.0003135
	5041	c.12367C > T	p. His4123Tyr	Het	rs151145750	0.0008	D	P	D	0.0007023
	5056	c.12595C > T	p. Arg4199Cys	Het	rs374874272	0.00002	D	D	D	0
	5063	c.10169A > G	p. Asp3390Gly	Het	This study	NA	D	B	D	0
	5042	c.7123A > T	p. Ile2375Phe	Het	rs529696058	0.00002	D	P	D	0.0003469
	5078/5133	c.6053T > C	p. Ile2018Thr	Het	rs117989731	0.0004	D	D	D	0.001041
	5102/5145/5188	c.12472C > T	p. Arg4158Trp	Het	rs3756672	0.0130	D	D	D	0.004219
	5119	c.9781A > G	p. Lys3261Glu	Het	rs146215039	0.0006	T	B	D	0.0002636
	5138	c.9236G > A	p. Arg3079Gln	Het	This study	NA	T	P	D	0.00008246
ARMC4 (NM_018076)	5071	c. 1679C > T	p. Ala560Val	Het	This study	NA	D	D	D	0.00002482
MEGF8 (NM_001410)	5071	c.3109C > T	p. Arg1037Trp	Het	rs370522595	0.0005	D	D	D	0.0004647
MEGF8 (NM_001410)	5041	c.8068C > A	p. Pro2690Thr	Het	This study	NA	T	P	D	0
SHROOM3 (NM_020859)	5052	c.580C > A	p. His194Asn	Het	This study	NA	D	D	D	0
	5101/5126	c.4726A > G	p. Lys1576Glu	Het	rs1396351	0.0016	D	P	N	0.0008678
	5138	c.2905C > T	p. Arg969Trp	Het	rs3733245	0.00842	D	B	D	0.001332
NPHP4 (NM_015102)	5056	c.2198G > A	p. Gly733Asp	Het	rs587783027	0.0001	D	D	D	0.001476
	5050	c.880G > A	p. Gly294Ser	Het	This study	NA	D	D	D	0
	5020/5072	c.694C > T	p. Arg232Cys	Het	rs572497035	0.0001	D	D	D	0.0001258
	5044	c.3160C > T	p. Arg1054Cys	Het	rs373369949	0.0002	D	D	D	0.002275
ACVR2B (NM_001106)	5204	c.1219G > A	p. Val407Met	Het	This study	NA	D	P	D	0
ZIC3 (NM_003413)	5183	c.890G > T	p. Cys297Phe	Hemi	This study	NA	D	D	D	0

MAF, minor allele frequency; the date is from NCBI dbSNP data base and we use 1000 Genomes data.
Exome Aggregation Consortium (ExAC) version 3: minor allele frequencies for individuals of European descent are shown.
T: tolerant; P: probably damage; D: disease causing; B: Benign; Het: Heterozygous; Hemi: Hemizygous.

Search