Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
16-57004889-G-A | CETP | c.528-56G>A | - | IntronicSNV | - | 5/15 |
19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
6-20657564-A-G | CDKAL1 | c.371+7956A>G | - | IntronicSNV | - | 5/15 |
6-151252985-G-A | MTHFD1L | c.1257-4955G>A | - | IntronicSNV | - | 11/27 |
19-11210912-C-G | LDLR | c.81C>G | p.Cys27Trp | Missense | 2/18 | - |
19-11210912-C-A | LDLR | c.81C>A | p.Cys27* | Nonsense | 2/18 | - |
19-11728802-A-G | ZNF627 | c.*98A>G | - | 3-UTRSNV | 4/4 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
18-11987272-C-T | IMPA2 | c.96+5508C>T | - | IntronicSNV | - | 1/7 |
1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
15-67458639-T-C | SMAD3 | c.533-478T>C | - | IntronicSNV | - | 3/8 |
1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
9-15289578-C-T | TTC39B | c.240+17504G>A | - | IntronicSNV | - | 1/19 |
20-36399580-G-T | CTNNBL1 | c.750+3134G>T | - | IntronicSNV | - | 7/15 |
10-100205107-G-T | HPS1 | c.-51C>A | - | 5_prime_UTR_variant | 2/20 | - |
5-74648603-A-T | HMGCR | c.1368+1176A>T | - | IntronicSNV | - | 11/19 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |