Table 2.
Candidate pathogenic germline variants in 222 neuroblastoma WES cases
| Gene | Subject Identifier |
Genome position (build hg19) |
cDNA change |
Protein change |
|---|---|---|---|---|
| ALK | PARVLK | chr2:29432664 | c.3824G>A | p.Arg1275Gln |
| CHEK2 | PAKXDZ | chr22:29121242 | c.433C>T | p.Arg145Tro |
| CHEK2 | PAPTFZ | chr22:29121015 | c.542G>A | p.Arg181His |
| CHEK2 | PARJMX | chr22:29121018 | c.539G>A | p.Arg180His |
| PINK1 | PANYBL | chr1:20972133 | c.1040T>C | p.Leu437Pro |
| PINK1 | PATINJ | chr1:20971042 | c.836G>A | p.Arg279His |
| BARD1 | PAHYWC | chr2:215657051 | c.334C>T | p.Arg112* |
| BARD1 | PATGWT | chr2:215595215 | c.1921C>T | p.Arg641* |
| TP53 | PAICGF | chr17:7578194 | c.655C>T | p.Pro219Ser |
| PALB2 | PAPZYZ | chr16:23646182 | c.1684+1C>A | Splice at p.Gly562 |