Table 1 Patient demographics and genetics

1

6

F

p.I120C

p.G228C

PMID: 28425223

c.359 T > C

c.682G > T

2

4

M

p.R141H

p.P113L

PMID: 10801058

c.442G > A

c.338C > T

3

5

F

p.S47L

p.Q33P

c.140C > T

c.98A > C

4

4

F

p.R141H

p.F183S

c.422G > A

c.548 T > C

5

17

M

p.R141H

p.F119L

PMID: 30293989

c.422G > A

c.357C > A

6

15

M

p.D188G

p.V231M

PMID: 30293989

c.563A > G

c.691G > A

7

19

M

p.T237R

p.C241S

PMID: 30293989

c.710C > G

c.722G > C

8

28

F

p.R141H

p.T81S

PMID: 17694350

c.422G > A

c.422G > A

9

2

M

p.R141H

p.F119L

c.422G > A

c.357C > A