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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