Table 3.
PALB2 gene mutation associated with RECQL gene.
| Exo | DNA alteration | Protein alteration | PALB2 gene mutation |
|---|---|---|---|
| 16 | c.644G > A | p.Arg215Gln | c.1676A > G |
| 15 | c.700 + 1G > T | – | |
| 16 | c.199G > A | p.Ala67Thr | |
| 16 | c.1729A > C | p.Asn577His | |
| 16 | c.1361G > A | p.Arg454His | |
| 16 | c.1805C > T | p.Ser602Leu | c.1676A > G/c.3114-1G > A |
| 16 | c.1361G > A | p.Arg454His | c.925A > G/c.3379 T > C |
| 16 | c.2 T > C | p.Met1? | c.3122A > C/c.1676A > G/c.3054G > C |
| 16 | c.1114G > A | p.Val372Ile | c.925A > G/ c.1676A > G |
| 16 | c.1088A > G | p.Asn363Se |