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Table 2 Variants identified by NGS in blood samples of RB chidren

From: Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan

No.

Locations on thechromosomes

Exon

Mutation

 

Pathogenicanalysis

Allele

Protein

Cosegregation infamily

1

chr13–48,942,673-48,942,675

11

c.1061_1062del

novel

pathogenic

het

p.R355Nfs*6

De novo

2

chr13–49,030,485

19

c.1960 G > C

known

Likely pathogenic

het

p.V654L

De novo

3

chr13–49,039,158

22

c.2236 G > T

novel

pathogenic

het

p.E746X

Heterozygous mother

4

chr13–49,047,526-49,047,530

24

c.2520 + 1_2520 + 4delGTGA

novel

pathogenic

het

splicing

De novo

5

chr13–48,955,538

17

c.1654 C > T

known

Pathogenic

het

p.R552X

De novo

6

chr13–49,027,168

18

c.1735 C > T

known

pathogenic

het

p.R579X

De novo

7

chr13–48,881,547

2

c.264 + 5G > A

novel

pathogenic

het

splicing

De novo

8

chr13–48,942,685

11

c.1072C > T

known

pathogenic

het

p.R358X

De novo

9

chr13–48,923,160

6

c.607 + 1G > A

known

pathogenic

het

splicing

De novo

  1. *means termination