Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
10-96748492-G-A | CYP2C9 | c.1292-112G>A | - | IntronicSNV | - | 8/8 |
11-116623659-C-T | BUD13 | c.1766+4203G>A | - | IntronicSNV | - | 9/9 |
11-116624153-C-A | BUD13 | c.1766+3709G>T | - | IntronicSNV | - | 9/9 |
11-116624153-C-G | BUD13 | c.1766+3709G>C | - | IntronicSNV | - | 9/9 |
11-116647607-C-T | ZPR1 | c.*2034G>A | - | IntergenicSNV | 14/14 | - |
11-116624727-C-G | BUD13 | c.1766+3135G>C | - | IntronicSNV | - | 9/9 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
11-116656788-C-A | ZPR1 | c.496-190G>T | - | IntronicSNV | - | 4/13 |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
11-116640237-A-G | BUD13 | c.237+608T>C | - | IntronicSNV | - | 2/9 |
11-116807343-G-A | SIK3 | c.455-9247C>T | - | intron_variant | - | 3/23 |
11-116651115-C-G | ZPR1 | c.1180-562G>C | - | IntronicSNV | - | 12/13 |
11-116624703-G-T | BUD13 | c.1766+3159C>A | - | IntronicSNV | - | 9/9 |
11-116661826-T-C | APOA5 | c.162-43A>G | - | IntronicSNV | - | 3/3 |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116631707-T-C | BUD13 | c.1037-39A>G | - | IntronicSNV | - | 4/9 |
11-116631707-T-A | BUD13 | c.1037-39A>T | - | IntronicSNV | - | 4/9 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116651115-C-T | ZPR1 | c.1180-562G>A | - | IntronicSNV | - | 12/13 |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116645275-C-A | ZPR1 | c.*4366G>T | - | IntergenicSNV | 14/14 | - |
11-116645275-C-T | ZPR1 | c.*4366G>A | - | IntergenicSNV | 14/14 | - |
11-116652491-A-G | ZPR1 | c.1179+383T>C | - | IntronicSNV | - | 12/13 |