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 |