Table 2 Pathogenicity analysis of novel variants of PAH (NM_000277)
c.DNA change | p.change | Type | Classification | Evidences |
|---|---|---|---|---|
c.160_163delTTAT | L54fs*6 | Frameshift | Pathogenic | PVS1,PM2,PM3 |
c.305T > A | I102N | Missense | Likely pathogenic | PM1,PM2,PM3 PM5 |
c.376C > T | Q126* | Nonsense | Pathogenic | PVS1,PM2,PM3 |
c.599C > T | T200I | Missense | Likely pathogenic | PM1,PM2,PM3,PP3 |
c.694_696delCAGinsTAA | Q232* | Nonsense | Pathogenic | PVS1,PM2,PM3 |