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Table 3 Patients with known mutations used to validate the novel genetic approach for retinal disorders

From: Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Index

Phenotype

Gene

Mutation

Allele State

Read reference NGS

Read variant NGS

Mutation detected by NGS

Mean depth

CIC00034, F28

adRP

PRPF31

c.666dup

p.I223YfsX56

het

11

13

yes

21.3-22.5

CIC00140, F108

adRP

PRPF31

c.997delG

p.E333SfsX5

het

-

-

no

5.0-5.2

CIC00238, F165

arCSNB

TRPM1

c.1418G > C

p.R473P

homo

0

38

yes

36.7

CIC00707, F470

Best and adCSNB see Table 5

BEST1

c.73C > T

p.R25W

het

40

38

yes

99.4