Table 4.
Variants
| Gene | Chromosome | HGVS DNA reference | HGVS protein reference | Variant type | Predicted effect (substitution, deletion, etc.) | dbSNP/dbVar ID | Genotype (heterozygous/ homozygous) | ClinVar ID |
|---|---|---|---|---|---|---|---|---|
| TP53 | 17p13.1 | Unknown | Del exons 10-11 | Unknown | Unknown | Unknown | Unknown | Unknown |
| TP53 | 17p13.1 | NM_000546.5:c.184G > T | E62* | Single-nucleotide variant | Nonsense variant | Unknown | Unknown | SCV000882434 |
| TP53 | 17p13.1 | NM_000546.5:c.800G > A | R267Q | Single-nucleotide variant | Missense variant | rs587780075 | Heterozygous | 127823 |
| TP53 | 17p13.1 | NM_000546.5:c.467G > A | R156H | Single-nucleotide variant | Missense variant | rs371524413 | Heterozygous | 127811 |
| TP53 | 17p13.1 | NM_000546.5:c.586C > T | R196* | Single-nucleotide variant | Nonsense variant | rs397516435 | Heterozygous | 43589 |
| TP53 | 17p13.1 | NM_000546.5:c.743G > A | R248Q | Single-nucleotide variant | Missense variant | rs11540652 | Heterozygous | 12356 |
| TP53 | 17p13.1 | NM_000546.5:c.325T > G | F109V | Single-nucleotide variant | Missense variant | rs1057523496 | Heterozygous | 389644 |
| TP53 | 17p13.1 | NM_000546.5:c.524G > A | R175H | Single-nucleotide variant | Missense variant | rs28934578 | Heterozygous | 12374 |