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. 2017 Jul 28;8(47):82156–82164. doi: 10.18632/oncotarget.18955

Figure 2. Sanger sequencing verified heterozygous variants identified by next generation sequencing technology.

Figure 2

There were total six heterozygous variants identified in the patient by NGS coupled with DNA target-capture array on Illumina HiSeq2000 platform: MECP2, NM_001110792, c.605G->A, p.Arg190His, DDOST, NM_005216, c.59C->T, p.Pro20Leu, HADHA, NM_000182, c.1801_1802insG, CACNA1H, NM_021098, c.6517C->T, p.Pro2173Ser, COL4A1, NM_001845, c.3431C->G, p.Thr1144Arg, GPR56, c.1906C->T, p.Gln636Ter. Sanger sequencing were taken to analyze each variant in the proband and her parents. Except for the de novo mutation of MECP2 R190H, the proband inherited other five gene variants from her healthy mother or father. Mutated positions were point out by arrows. X represented termination.