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. 2022 Sep 22;23(19):11175. doi: 10.3390/ijms231911175

Figure 5.

Figure 5

Examples of mosaic analysis. (a) TSC1 mosaic mutation, NM_000368.5:c.1960C>T p.(Gln654Ter), detected in family 267. CHIPS and Sanger sequencing detected this mosaic mutation (black arrows and red asterisks). (b) TSC2 very low-frequency mosaic mutation detected in family 254. NGS analysis (CoLAS) predicted TSC2 18bp deletion as a mosaic. Direct sequencing could not detect the mutation. As family 97 has the same mutation, a dilution series was made with control DNA, and CHIPS analysis was performed. When the heteroduplex bands (black arrows) were excised and sequenced, the 18 base pair deletion could be detected in the patient.