Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116661530-G-A | APOA5 | c.415C>T | p.Gln139* | Nonsense | 4/4 | - |
11-116661512-G-A | APOA5 | c.433C>T | p.Gln145* | Nonsense | 4/4 | - |
11-116661503-G-A | APOA5 | c.442C>T | p.Gln148* | Nonsense | 4/4 | - |
8-133885381-G-T | TG | c.553G>T | p.Ala185Ser | Missense | 5/48 | - |
8-133879301-C-G | TG | c.56C>G | p.Ala19Gly | Missense | 1/48 | - |
11-116661656-G-A | APOA5 | c.289C>T | p.Gln97* | Nonsense | 4/4 | - |