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