Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Table 6 Details of the candidate variant narrowed down using consecutive filters based on an autosomal recessive model of inheritance and low frequency

Chromosome	Chr 5
Position	94803683
Gene name	TTC37
RefSeq	NM_014639
Reference sequence	G
Proband: number of reads with reference	0
Proband: alternative	A
Proband: number of reads with alternative	43
Mother: number of reads with reference	88
Mother: alternative	A
Mother: number of reads with alternative	43
Father: number of reads with reference	49
Father: alternative	A
Father: number of reads with alternative	11
Mutation type	Missense
Mutation: DNA (HGVS nomenclature _c.)	c.4597 C > T
Mutation: protein (HGVS nomenclature _p.)	R1503C
Prediction < SIFT	Damaging
Prediction < PolyPhen-2	Probably damaging
Sanger verification	Yes

ISSN: 1471-2350