Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116640368-A-G | BUD13 | c.237+477T>C | - | IntronicSNV | - | 2/9 |
11-116642137-C-T | BUD13 | c.144-1199G>A | - | IntronicSNV | - | 1/9 |
11-116628401-T-C | BUD13 | c.1684+81A>G | - | IntronicSNV | - | 8/9 |
11-116624703-G-T | BUD13 | c.1766+3159C>A | - | IntronicSNV | - | 9/9 |
11-116703640-G-C | APOC3 | c.*40G>C | - | 3-UTRSNV | 4/4 | - |
11-116707583-A-G | APOA1 | c.200+134T>C | - | 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 | - |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
11-116741572-A-C | SIK3 | c.1738-455T>G | - | intron_variant | - | 13/23 |
11-116645149-A-G | ZPR1 | c.*4492T>C | - | IntergenicSNV | 14/14 | - |
11-116635784-A-G | BUD13 | c.322+294T>C | - | IntronicSNV | - | 3/9 |
11-116632500-C-T | BUD13 | c.1036+769G>A | - | IntronicSNV | - | 4/9 |
11-116631707-T-C | BUD13 | c.1037-39A>G | - | IntronicSNV | - | 4/9 |
11-116631707-T-A | BUD13 | c.1037-39A>T | - | IntronicSNV | - | 4/9 |
11-116629949-C-T | BUD13 | c.1255-54G>A | - | IntronicSNV | - | 5/9 |
11-116626258-G-A | BUD13 | c.1766+1604C>T | - | IntronicSNV | - | 9/9 |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
11-116631690-G-A | BUD13 | c.1037-22C>T | - | IntronicSNV | - | 4/9 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
11-116651463-T-G | ZPR1 | c.1180-910A>C | - | IntronicSNV | - | 12/13 |
11-116721826-C-T | SIK3 | c.3512-1827G>A | - | intron_variant | - | 20/23 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116658122-G-T | ZPR1 | c.333+76C>A | - | IntronicSNV | - | 2/13 |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116651463-T-A | ZPR1 | c.1180-910A>T | - | IntronicSNV | - | 12/13 |
11-116620256-C-A | BUD13 | c.1767-965G>T | - | IntronicSNV | - | 9/9 |
11-116633862-G-A | BUD13 | c.443C>T | p.Pro148Leu | Missense | 4/10 | - |
11-116662579-C-T | APOA5 | c.1-3G>A | - | 5-UTRSNV | 2/4 | - |
11-116654159-A-G | ZPR1 | c.981+87T>C | - | IntronicSNV | - | 10/13 |
11-116652301-C-T | ZPR1 | c.1179+573G>A | - | IntronicSNV | - | 12/13 |
11-116621770-G-A | BUD13 | c.1767-2479C>T | - | IntronicSNV | - | 9/9 |
11-116631391-T-C | BUD13 | c.1254+60A>G | - | IntronicSNV | - | 5/9 |