Identification of rare and common variants in BNIP3L: a schizophrenia susceptibility gene

Table 2 Detailed information of rare mutations detected in this study

Variants	Position	Variants status	SIFT	Polyphen-2	MutationTaster	LRT	CADD score	Novel or not	Individuals	Gender	Group
NM_004331: c.52A>G/p.Asn18Asp	chr8:26383182	Heterozygous	D	P	D	N	23.6	rs549425213	55S0002	Male	SCZ
									55S0703
									DI226
									55S0439	Female
									DI182	Female
NM_004331: c.167G>A/p.Gly56Glu, NM_001330491: c.47G>A/p.Gly16Glu	chr8:26391309	Heterozygous	D	D	D	D	31	novel	YZ005	Male	SCZ
NM_004331: c.313A>T/p.Met105Leu, NM_001330491: c.193A>T/p.Met65Leu	chr8:26395258	Heterozygous	T	B	D	D	22.1	novel	SYS0036	Female	SCZ
	chr8:26395258	Heterozygous	T	B	D	D	22.1	novel	DI010	Female	SCZ

D deleterious for SIFT and LRT, probably damaging for Polyphen-2, disease_causing for MutationTaster; T, tolerated; P, possibly damaging; B, benign; N, neutral; SCZ, schizophrenia; CADD, Combined Annotation Dependent Depletion

ISSN: 1479-7364