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

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