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Table 2 Ten parents suspected of low-level somatic mosaicism enrolled in this study

From: Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Parent Gene Variant Mosaic using NGS Tissues received
M1 USP7 c.238A > T Yes Yes
M2 PTPN11 c.923A > G Yes Yes
M3 PTPN11 c.923A > G Yes Yes
M4 COL11A1 c.3816 + 2dupT Yes Yes
M5 CACNA1C c.694G > C Yes Yes
M6 SYNGAP1 c.1782dupC No Yes
M7 SYNGAP1 c.654_655delCT No Yes
M8 PUF60 c.628C > T No Yes
F1 STXBP1 c.1099C > T No No
F2 NEDD4L c.814-6 T > A No Yes
  1. M mother, F father