Table 1.
Variant table
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect (substitution, deletion, etc.) | dbSNP/dbVar ID | Genotype (heterozygous/homozygous) | ClinVar ID | Parent of origin |
|---|---|---|---|---|---|---|---|---|---|
| BRAF | 7 | NM_004333: c.T1799A | NP_004324: p.V600E | SNV | Substitution | rs113488022 | Heterozygous (somatic) | VCV000013961 | — |
| PALB2 | 16 | NM_024675: c.C1240T | NP_078951: p.R414X | Stop-gain-SNV | Substitution | rs180177100 | Heterozygous (germline) | VCV000128117 | Unknown |
(HGVS) Human Genome Variation Society, (SNV) single-nucleotide variant.