Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
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 |
15-58724524-A-G | LIPC | c.88+205A>G | - | IntronicSNV | - | 1/8 |
12-90060586-G-A | ATP2B1 | c.1-10923C>T | - | IntergenicSNV | - | 1/20 |
12-113409176-G-A | OAS3 | c.*1398G>A | - | 3-UTRSNV | 16/16 | - |
6-20663632-T-G | CDKAL1 | c.371+14024T>G | - | IntronicSNV | - | 5/15 |
12-111350655-A-G | MYL2 | c.402+245T>C | - | IntronicSNV | - | 6/6 |
22-44391686-G-A | SAMM50 | c.1365-532G>A | - | IntronicSNV | - | 14/14 |
16-57012379-T-G | CETP | c.1146+212T>G | - | IntronicSNV | - | 11/15 |
9-107653426-G-A | ABCA1 | c.67-1950C>T | - | IntronicSNV | - | 2/49 |
8-19813702-G-A | LPL | c.1018+108G>A | - | IntronicSNV | - | 6/9 |
16-17411635-A-G | XYLT1 | c.402+40234T>C | - | IntronicSNV | - | 2/11 |
22-44325996-G-T | PNPLA3 | c.486+1227G>T | - | IntronicSNV | - | 3/8 |
6-43746410-C-T | VEGFA | c.932+137C>T | - | IntronicSNV | - | 4/7 |
22-44325996-G-A | PNPLA3 | c.486+1227G>A | - | IntronicSNV | - | 3/8 |
22-44325996-G-C | PNPLA3 | c.486+1227G>C | - | IntronicSNV | - | 3/8 |
3-15347293-C-T | SH3BP5 | c.202-1555G>A | - | IntronicSNV | - | 2/8 |
8-19813702-G-T | LPL | c.1018+108G>T | - | IntronicSNV | - | 6/9 |
12-111939547-G-A | ATXN2 | c.1935+7806C>T | - | intron_variant | - | 14/24 |
6-20661250-G-T | CDKAL1 | c.371+11642G>T | - | IntronicSNV | - | 5/15 |
6-20661250-G-C | CDKAL1 | c.371+11642G>C | - | IntronicSNV | - | 5/15 |
6-20661250-G-A | CDKAL1 | c.371+11642G>A | - | IntronicSNV | - | 5/15 |
20-42897549-T-G | GDAP1L1 | c.760+4350T>G | - | IntronicSNV | - | 5/5 |
3-141143430-G-C | ZBTB38 | c.1-17801G>C | - | IntronicSNV | - | 7/7 |
3-141143430-G-A | ZBTB38 | c.1-17801G>A | - | IntronicSNV | - | 7/7 |
3-15347293-C-G | SH3BP5 | c.202-1555G>C | - | IntronicSNV | - | 2/8 |
11-116813979-A-G | SIK3 | c.454+10781T>C | - | intron_variant | - | 3/23 |
11-116813979-A-C | SIK3 | c.454+10781T>G | - | intron_variant | - | 3/23 |
12-111333622-T-C | CCDC63 | c.1149+2668T>C | - | IntronicSNV | - | 9/11 |