Table 2 Pathogenic mutations in PCH.

TSEN54

c.178_215del

p.E60AfsX109

PCH4

TSEN54

c.285G > C

p.A95A Splice site mutation

PCH4

TSEN54

c.277T > C

p.S93P

PCH4

TSEN54

c.371G > T

p.G124V

PCH2

TSEN54

c.370-2A > G

p.G124_Q138del

PCH4

TSEN54

c.468+2T > C

Splice site mutation

PCH5

TSEN54

c.736C > T

p.Q246X

PCH4

TSEN54

c.919G > T

p.A307S (common)

PCH1, PCH2, PCH4, PCH5

TSEN54

c.953delC

p.P318QfsX23

PCH4

TSEN54

c.1027C > T

p.Q343X

PCH4

TSEN54

c.1056_1057del

p.R353GfsX81

PCH4

TSEN54

c.1170_1183del

p. V390fsX39

PCH4

TSEN54

c.1251A > G

p.P417P Splice site mutation

PCH4

TSEN54

c.1430+2T > A

Splice site mutation

PCH4

TSEN54

c.1537T > G

p.Y513D

PCH4

TSEN34

c.172C > T

p.R58W

PCH2

TSEN2

c.926A > G

p.Y309C

PCH2

TSEN2

c.960+1delGTAAG

Splice site mutation

PCH2

RARS2

c.35A > G

p.Q12R

PCH1, PCH6

RARS2

c.110+5A > G

Splice site mutation

PCH1, PCH6

RARS2

c.1024A > G

p.M342V

PCH6

VRK1

c.1072C > T

p.R358X

PCH1