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. 2017 Dec 6;7:17087. doi: 10.1038/s41598-017-17181-9

Figure 2.

Figure 2

Co-segregation analysis of family with LDLR novel mutation p(.Leu479Gln). (A) NGS sequencing reads alignment using Integrated Genomics Viewer (http://software.broadinstitute.org/software/igv/) for proband FH14-P reports a variant at exon 10 of the LDLR gene [c.1436 T > A, p(.Leu479Gln)], the calling rate A allele of the variant is 95% which indicates the proband is a homozygote for the variant. (B) Co-segregation analysis of the FH14 family shows the 3 other family members are heterozygotes of the variant. (C) Sanger sequencing shows a base change between homozygote and heterozygote inherited modes.