T-REx

Consequence	Impact	Gene	HGVSg	HGVSc	HGVSp	cDNA position	CDS position	Protein position	Codons	Amino acids	SIFT score	PolyPhen score
missense_variant	MODERATE	SPTB	chr14:g.65234066T>C	NM_001024858.2:c.6224A>G	NP_001020029.1:p.Glu2075Gly	6278/10064	6224/6987	2075/2328	gAg/gGg	E/G	deleterious(0)	possibly_damaging(0.8)

Subpopulation	Allele count	Allele number	Allele frequency
Group A	0	228	C:0.000e+00
Group B	0	170	C:0.000e+00
Group C	1	588	C:0.002
Group D	4	872	C:0.005
Group E	3	198	C:0.015
Group X	0	128	C:0.000e+00
All Thais	8	2184	C:0.004

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Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		0	16252	0	0.0
Ashkenazi Jewish		0	10080	0	0.0
European (non-Finnish)
	Southern European	0	11502	0	0.0
	North-western European	0	42212	0	0.0
	Bulgarian	0	2670	0	0.0
East Asian		0	18392	0	0.0
	Japanese	0	152	0	0.0
	Korean	0	3818	0	0.0
	Other East Asian	0	18392	0	0.0
European (Finnish)		0	21532	0	0.0
South Asian		0	30616	0	0.0
Other		0	6138	0	0.0