Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-116654159-A-G | ZPR1 | c.981+87T>C | - | IntronicSNV | - | 10/13 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116656788-C-A | ZPR1 | c.496-190G>T | - | IntronicSNV | - | 4/13 |
11-116639104-A-T | BUD13 | c.237+1741T>A | - | IntronicSNV | - | 2/9 |
11-116652351-A-G | ZPR1 | c.1179+523T>C | - | IntronicSNV | - | 12/13 |
11-116651463-T-G | ZPR1 | c.1180-910A>C | - | IntronicSNV | - | 12/13 |
11-116651463-T-A | ZPR1 | c.1180-910A>T | - | 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 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
11-116652301-C-T | ZPR1 | c.1179+573G>A | - | IntronicSNV | - | 12/13 |
11-116660450-A-G | APOA5 | c.*394T>C | - | 3-UTRSNV | 4/4 | - |
11-116651115-C-T | ZPR1 | c.1180-562G>A | - | IntronicSNV | - | 12/13 |
11-116654531-G-A | ZPR1 | c.892-196C>T | - | IntronicSNV | - | 9/13 |
11-116652491-A-G | ZPR1 | c.1179+383T>C | - | IntronicSNV | - | 12/13 |
11-116651115-C-G | ZPR1 | c.1180-562G>C | - | IntronicSNV | - | 12/13 |
11-116657593-A-AA | ZPR1 | c.424+94_424+94dup | - | IntronicInsertion | - | 3/13 |
11-116649135-G-A | ZPR1 | c.*506C>T | - | IntergenicSNV | 14/14 | - |
11-116654959-G-A | ZPR1 | c.891+135C>T | - | IntronicSNV | - | 9/13 |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
11-116639104-A-G | BUD13 | c.237+1741T>C | - | IntronicSNV | - | 2/9 |
11-116650118-C-T | ZPR1 | c.1246-343G>A | - | IntronicSNV | - | 13/13 |
11-116657561-C-T | ZPR1 | c.424+124G>A | - | IntronicSNV | - | 3/13 |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
11-116658031-T-G | ZPR1 | c.333+167A>C | - | IntronicSNV | - | 2/13 |
11-116653296-C-T | ZPR1 | c.1093-336G>A | - | IntronicSNV | - | 11/13 |
11-116653296-C-G | ZPR1 | c.1093-336G>C | - | IntronicSNV | - | 11/13 |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |