Table 1.
NGS Genetic Information of mutation of proband and proband's father
| DNA Sample | Blood of the Proband’s Father | Blood of the Proband | Tissue of the Proband |
|---|---|---|---|
| gene | RASA1 | RASA1 | RASA1 |
| chr:posi | 5:86686626 | 5:86686626 | 5:86686626 |
| ref > alt | A > T | A > T | A > T |
| type | SNV | SNV | SNV |
| geno | 0/1 | 0/1 | 0/1 |
| AD | 8787 + 7664 | 8491 + 7769 | 10,029 + 10,997 |
| hgvs_c | c.3070A > T | c.3070A > T | c.3070A > T |
| hgvs_p | p.Lys1024* | p.Lys1024* | p.Lys1024* |
| impact | stop gained | stop gained | stop gained |
| impact_severity | HIGH | HIGH | HIGH |
| aaf_1kg_eas | None | None | None |
| in_exac | None | None | None |