Table 1.
Gene | Chromosome | Genomic location | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect | dbSNP/dbVar ID | Genotype |
---|---|---|---|---|---|---|---|---|
POLE | 12 | g.133249847G > A | c.1376C > T | p.S459F | Sub | Missense | Heterozygous | |
TP53 | 17 | g.7578395 G > A | c.535C > T | p.H179Y | Sub | Missense | rs587780070 | Heterozygous |
CDKN2A | 9 | g. 21694602–23444942 | Homozygous deletion | Whole gene deletion | Homozygous |