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

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

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
  1. HGVS Human Genome Variation Society, SIFT Sorting Intolerant from Tolerant
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BMC Medical Genetics

ISSN: 1471-2350

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