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Fig. 1 | Egyptian Journal of Medical Human Genetics

Fig. 1

From: Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

Fig. 1

A Pedigree of the probands' family. B IGV plot showing the mutation region in WES data in the proband. Track comprises two parts: a histogram of the read depth and the reads as aligned to the reference sequence. Reads are colored according to the aligned strand (red = forward strand; blue = reverse strand). C Sanger sequence chromatogram showing a novel heterozygous missense variant in exon 200 of the TTN gene (c.41529G > C;p.Arg13843Ser) associated with tibial muscular dystrophy

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