3.

KS05家系中相关基因测序及验证结果

Result of sequencing and validation in family KS05

	Proband	Ⅱ:5	Ⅱ:6	Ⅲ:2	Classification	SIFT	Polyphen2_HDIV
MYLK:c.1327C > T (p.P443S)	√	√			Benign	D	D
FLNA:c.4042C > A (p.P1348T)	√		√	√	VUS	T	B
PDIA2:c.1403C > T (p.P468L)	√	√			VUS	D	P
PDIA2:c.356C > G (p.T119R)		√		√	Benign	D	D
APC:c.7877C > A (p.T2626N)	√		√	√	VUS	T	B
NFATC1:c.230C > T (p.P77L)	√	√			VUS	D	P
FLT1 c.1437-5- > T	√	√			VUS
ZNF236:c.995C > (p.T332M)	√				VUS	D	D