Table 2. Type, AF and mutation sites of TP53 gene and NOTCH1 gene in 13 patients.
| Patient number | Gene | Mutation type | AF, % | Mutation site |
|---|---|---|---|---|
| N03 | TP53 | Missense | 8.00 | TP53:c.338T>G(p.Phe113Cys) |
| TP53 | Stop_gained | 4.30 | TP53:c.637C>T(p.Arg213*) | |
| TP53 | Missense | 3.50 | TP53:c.659A>G(p.Tyr220Cys) | |
| NOTCH1 | Missense | 8.10 | NOTCH1:c.293G>T(p.Cys98Phe) | |
| NOTCH1 | Missense | 2.70 | NOTCH1:c.1348G>A(p.Glu450Lys) | |
| NOTCH1 | Inframe_ deletion | 2.00 | NOTCH1:c.1138_1140delCCC(p.Pro380del) | |
| N04 | TP53 | Missense | 24.50 | TP53:c.518T>G(p.Val173Gly) |
| NOTCH1 | Missense | 2.90 | NOTCH1:c.1120G>T(p.Asp374Tyr) | |
| NOTCH1 | Missense | 3.10 | NOTCH1:c.1348G>A(p.Glu450Lys) | |
| N05 | TP53 | Missense | 11.80 | TP53:c.701A>G(p.Tyr234Cys) |
| N06 | TP53 | Missense | 2.70 | TP53:c.641A>G(p.His214Arg) |
| N09 | TP53 | Stop_ gained | 2.20 | TP53:c.574C>T(p.Gln192*) |
| TP53 | Missense | 1.10 | TP53:c.742C>T(p.Arg248Trp) | |
| TP53 | Frameshift_variant | 18.60 | TP53:c.516dupT(p.Val173fs) | |
| NOTCH1 | Disruptive Inframe_ deletion | 26.40 | NOTCH1:c.1070_1072delTCT(p.Phe357del) | |
| N10 | TP53 | Missense | 63.70 | TP53:c.743G>A(p.Arg248Gln) |
| NOTCH1 | Missense | 78.50 | NOTCH1:c.1366T>A(p.Cys456Ser) | |
| NOTCH1 | Missense | 77.20 | NOTCH1:c.1365G>T(p.Glu455Asp) | |
| N11 | TP53 | Missense | 6.00 | TP53:c.396G>T(p.Lys132Asn) |
| NOTCH1 | Frameshift_variant | 8.00 | NOTCH1:c.1952_1958delACTCGGG(p.Asp651fs) | |
| N12 | NOTCH1 | Missense | 2.40 | NOTCH1:c.1093C>T(p.Arg365Cys) |
Frameshift_variant: insertion or deletion causes a frame shift. Missense: variant causes a codon that produces a different amino acid. Stop_gained: variant causes a STOP codon (nonsense_variant). Inframe_deletion: one or many codons are deleted. Disruptive inframe_deletion: one codon is changed and one or more codons are deleted. AF, allele frequency.