Table 1 Genetic mutations in the sister’s hematopoietic cells (Sample A), oral mucosal cells (Sample B) and the brother’s hematopoietic cells (Sample C) detected by WES

Genetic mutations shared by Sample A,B,C

ARHGEF10L

1

18,014,104

G

A

V794M, V972M, V719M, V1016M, V977M

YIF1B

19

38,798,111

T

C

Y234C, Y232C, Y249C, Y246C, Y218C

AMBRA1

11

46,529,825

C

T

R662H, R755H, R633H

ATRAID

2

27,438,205

T

C

C80R, C22R, C135R

CACNB3

12

49,212,737

G

A

G9R

IPO4

14

24,650,793

G

C

L991V

PLA2G15

16

68,293,133

C

T

P271L

ZNF574

19

42,582,813

T

C

S109P, S19P

NID2

14

52,505,486

T

G

N746H

ALG8

11

77,824,984

C

T

G242E

HOXB5

17

46,670,899

T

C

Y49C

TIE1

1

43,787,288

T

G

Y1083D, Y1038D

CACNA1F

X

49,066,102

G

C

S1603C, S1614C, S1549C

FREM2

13

39,263,181

C

G

T567R

Genetic mutations shared by Sample A and C

ZGRF1

4

113,506,711

C

T

E1305K, E1363K

SLC43A2

17

1,495,007

C

T

CHM

X

85,134,073–85,134,073

–

A

Genetic mutations specific to Sample A

SF3B1

2

198,267,483

C

T

R625H

BRAF

7

140,481,411

C

T

G466E

ZC3H7B

22

41,742,094

G

C

R516P

LAMC1

1

183,077,450

C

T

R255C