Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116649765-G-A | ZPR1 | c.1256C>T | p.Ala419Val | Missense | 14/14 | - |
11-116728630-G-A | SIK3 | c.3407C>T | - | missense_variant | 20/24 | - |
11-116649538-A-G | ZPR1 | c.*103T>C | - | 3-UTRSNV | 14/14 | - |
11-116655600-G-C | ZPR1 | c.791C>G | p.Ala264Gly | Missense | 8/14 | - |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
11-116701353-C-T | APOC3 | c.55C>T | p.Arg19* | Nonsense | 2/4 | - |
11-116728630-G-T | SIK3 | c.3407C>A | - | missense_variant | 20/24 | - |
11-116628401-T-C | BUD13 | c.1684+81A>G | - | IntronicSNV | - | 8/9 |
11-116655600-G-A | ZPR1 | c.791C>T | p.Ala264Val | Missense | 8/14 | - |
11-116701560-G-A | APOC3 | c.127G>A | p.Ala43Thr | Missense | 3/4 | - |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
11-116652301-C-T | ZPR1 | c.1179+573G>A | - | IntronicSNV | - | 12/13 |
11-116728630-G-C | SIK3 | c.3407C>G | - | missense_variant | 20/24 | - |
11-116701500-G-A | APOC3 | c.67G>A | p.Ala23Thr | Missense | 3/4 | - |
11-116807343-G-A | SIK3 | c.455-9247C>T | - | intron_variant | - | 3/23 |
11-116631707-T-C | BUD13 | c.1037-39A>G | - | IntronicSNV | - | 4/9 |
11-116631707-T-A | BUD13 | c.1037-39A>T | - | IntronicSNV | - | 4/9 |
11-116661826-T-C | APOA5 | c.162-43A>G | - | IntronicSNV | - | 3/3 |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |