Table 2 CHM variants identified in this cohort of patients

F1

c.1960 T > C

p.Ter654Gln

read through

EX15

LP

Novel

F2

c.877C > T

p.Arg293*

nonsense

EX7

P

[22, 23]

F3

c.1257del

p.Ile420*fs1

frameshift

EX10

LP

Novel

F4

c.1103_1121delATGGCAACACTCCATTTTT

p.Tyr368Cysfs35

frameshift

EX8

LP

Novel

F5

c.1414-2A > T

–

splicing

IN 11

P

Novel

F6

c.1213C > T

p.Gln405*

nonsense

EX8

P

Novel

F7

c.117-1G > A

–

splicing

EX2

LP

Novel