Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116661530-G-A | APOA5 | c.415C>T | p.Gln139* | Nonsense | 4/4 | - |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
19-34887552-T-C | GPI | c.1259T>C | p.Leu420Pro | Missense | 14/18 | - |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
8-144297182-A-C | GPIHBP1 | c.344A>C | p.Gln115Pro | Missense | 4/4 | - |