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

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