Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-57006590-C-G | CETP | c.750+595C>G | - | IntronicSNV | - | 8/15 |
16-56996288-G-A | CETP | c.118+279G>A | - | IntronicSNV | - | 1/15 |
2-27801493-T-C | C2orf16 | c.2054T>C | p.Val685Ala | Missense | 1/1 | - |
11-116648917-G-C | ZPR1 | c.*724C>G | - | IntergenicSNV | 14/14 | - |
2-27742603-T-C | GCKR | c.1572+799T>C | - | IntronicSNV | - | 17/18 |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
16-57006590-C-T | CETP | c.750+595C>T | - | IntronicSNV | - | 8/15 |
11-116661392-C-T | APOA5 | c.553G>A | p.Gly185Ser | Missense | 4/4 | - |
11-116661392-C-A | APOA5 | c.553G>T | p.Gly185Cys | Missense | 4/4 | - |
11-92708710-C-G | MTNR1B | c.223+5596C>G | - | IntronicSNV | - | 1/1 |
2-27730940-T-C | GCKR | c.1337T>C | p.Leu446Pro | Missense | 15/19 | - |
16-57017292-A-G | CETP | c.1376A>G | p.Asp459Gly | Missense | 15/16 | - |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
2-27801759-A-G | C2orf16 | c.2320A>G | p.Ile774Val | Missense | 1/1 | - |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
11-116660686-G-A | APOA5 | c.*158C>T | - | 3-UTRSNV | 4/4 | - |
2-27730940-T-G | GCKR | c.1337T>G | p.Leu446Arg | Missense | 15/19 | - |
2-27741237-T-C | GCKR | c.1423-418T>C | - | IntronicSNV | - | 16/18 |
2-27743154-A-G | GCKR | c.1572+1350A>G | - | IntronicSNV | - | 17/18 |
11-116628401-T-C | BUD13 | c.1684+81A>G | - | IntronicSNV | - | 8/9 |