Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
11-116633947-G-A | BUD13 | c.358C>T | p.Arg120Cys | Missense | 4/10 | - |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
11-116645275-C-T | ZPR1 | c.*4366G>A | - | IntergenicSNV | 14/14 | - |
11-116645275-C-A | ZPR1 | c.*4366G>T | - | IntergenicSNV | 14/14 | - |
11-116620256-C-A | BUD13 | c.1767-965G>T | - | IntronicSNV | - | 9/9 |
11-116640368-A-G | BUD13 | c.237+477T>C | - | IntronicSNV | - | 2/9 |