Table 1.
Gene name
|
Mutation type
|
Reference allele
|
Observed allele
|
cDNA changed
|
Amino acid change
|
Variant type
|
Exon
|
Clinical significance
|
Allele frequency (%)
|
ERCC3 | Germline | T | C | c.2333A>G | p.K778R | Missense | 15 | Uncertain significance | 50.56 |
RNF43 | Germline | C | T | c.434G>A | p.R145Q | Missense | 4 | Likely benign | 44.79 |
TP53 | Somatic | C | T | c.853G>A | p.E285K | Missense | 8 | Pathogenic/likely pathogenic | 10.43 |
ERCC3 | Somatic | G | A | c.377C>T | p.A126V | Missense | 3 | Uncertain significance | 2.24 |
FANCD2 | Somatic | G | A | c.4297G>A | p.E1433K | Missense | 44 | Uncertain significance | 1.42 |
CHEK2 | Somatic | G | A | c.538C>T | p.R180* | Stop gained | 4 | Pathogenic | 1.38 |
PALB2 | Somatic | C | T | c.2986G>A | p.E996K | Missense | 9 | Uncertain significance | 1.33 |
ROS1 | Somatic | C | T | c.4252G>A | p.V1418I | Missense | 26 | Uncertain significance | 1.30 |
PIK3CA | Somatic | G | A | c.436G>A | p.V146I | Missense | 2 | Uncertain significance | 1.24 |
RAD51B | Somatic | G | A | c.140G>A | p.R47Q | Missense | 3 | Uncertain significance | 1.16 |
PTEN | Somatic | G | A | c.698G>A | p.R233Q | Missense | 7 | Uncertain significance | 1.12 |
BRCA2 | Somatic | C | A | c.2557C>A | p.Q853K | Missense | 11 | Likely benign | 1.06 |