Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116624703-G-T | BUD13 | c.1766+3159C>A | - | IntronicSNV | - | 9/9 |
11-116635784-A-G | BUD13 | c.322+294T>C | - | IntronicSNV | - | 3/9 |
11-116640368-A-G | BUD13 | c.237+477T>C | - | IntronicSNV | - | 2/9 |
3-131626159-C-T | CPNE4 | c.1-1872G>A | - | IntronicSNV | - | 1/15 |
11-116620256-C-A | BUD13 | c.1767-965G>T | - | IntronicSNV | - | 9/9 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116642137-C-T | BUD13 | c.144-1199G>A | - | IntronicSNV | - | 1/9 |
11-116639941-A-G | BUD13 | c.237+904T>C | - | IntronicSNV | - | 2/9 |
11-116658122-G-T | ZPR1 | c.333+76C>A | - | IntronicSNV | - | 2/13 |
11-116645149-A-G | ZPR1 | c.*4492T>C | - | IntergenicSNV | 14/14 | - |
11-116707583-A-G | APOA1 | c.200+134T>C | - | IntronicSNV | - | 3/3 |
2-168956022-A-G | STK39 | c.1090-24281T>C | - | IntronicSNV | - | 10/17 |
11-116632500-C-T | BUD13 | c.1036+769G>A | - | IntronicSNV | - | 4/9 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
1-109817590-G-T | CELSR2 | c.*919G>T | - | 3-UTRSNV | 34/34 | - |
11-116628401-T-C | BUD13 | c.1684+81A>G | - | IntronicSNV | - | 8/9 |
11-116634557-T-C | BUD13 | c.323-575A>G | - | IntronicSNV | - | 3/9 |
11-116639941-A-T | BUD13 | c.237+904T>A | - | IntronicSNV | - | 2/9 |
11-116621770-G-A | BUD13 | c.1767-2479C>T | - | IntronicSNV | - | 9/9 |