Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
15-65695136-C-A | IGDCC4 | c.564-311G>T | - | IntronicSNV | - | 3/19 |
15-65695136-C-T | IGDCC4 | c.564-311G>A | - | IntronicSNV | - | 3/19 |
11-68201295-C-T | LRP5 | c.3989C>T | p.Ala1330Val | Missense | 18/23 | - |
2-43732823-T-C | THADA | c.3559A>G | p.Thr1187Ala | Missense | 24/38 | - |
2-21237544-G-T | APOB | c.3697-79C>A | - | IntronicSNV | - | 23/28 |
9-104362937-A-G | GRIN3A | c.2766+12721T>C | - | IntronicSNV | - | 6/8 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
1-63049593-C-T | DOCK7 | c.1801-668G>A | - | IntronicSNV | - | 15/48 |
11-116662407-G-C | APOA5 | c.56C>G | p.Ser19Trp | Missense | 3/4 | - |
4-9935910-A-G | SLC2A9 | c.727+7627T>C | - | IntronicSNV | - | 7/12 |
4-9966380-A-G | SLC2A9 | c.594+15836T>C | - | IntronicSNV | - | 6/12 |
11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
11-116619073-C-T | BUD13 | c.*125G>A | - | 3-UTRSNV | 10/10 | - |
11-116619073-C-G | BUD13 | c.*125G>C | - | 3-UTRSNV | 10/10 | - |
1-63049593-C-G | DOCK7 | c.1801-668G>C | - | IntronicSNV | - | 15/48 |
16-28883241-A-T | SH2B1 | c.1450A>T | p.Thr484Ser | Missense | 5/9 | - |
16-28883241-A-G | SH2B1 | c.1450A>G | p.Thr484Ala | Missense | 5/9 | - |
2-44073881-T-C | ABCG8 | c.322+431T>C | - | IntronicSNV | - | 3/12 |
7-72982874-C-T | TBL2 | c.*1963G>A | - | IntergenicSNV | 7/7 | - |
3-118948171-A-G | B4GALT4 | c.253+523T>C | - | IntronicSNV | - | 3/7 |
1-63118196-A-T | DOCK7 | c.389+1200T>A | - | IntronicSNV | - | 4/48 |
1-63118196-A-C | DOCK7 | c.389+1200T>G | - | IntronicSNV | - | 4/48 |
7-72864869-A-G | BAZ1B | c.3580+308T>C | - | IntronicSNV | - | 14/19 |
9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
16-56919348-C-G | SLC12A3 | c.1925+72C>G | - | IntronicSNV | - | 15/25 |
16-56919348-C-A | SLC12A3 | c.1925+72C>A | - | IntronicSNV | - | 15/25 |
2-21232195-G-A | APOB | c.7545C>T | p.Thr2515Thr | Synonymous | 26/29 | - |
9-107647220-C-T | ABCA1 | c.161-371G>A | - | IntronicSNV | - | 3/49 |
9-15289578-C-T | TTC39B | c.240+17504G>A | - | IntronicSNV | - | 1/19 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
19-11210912-C-T | LDLR | c.81C>T | p.Cys27Cys | Synonymous | 2/18 | - |
20-44576502-T-C | PCIF1 | c.*108T>C | - | 3-UTRSNV | 17/17 | - |
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 | - |
11-116652207-C-T | ZPR1 | c.1179+667G>A | - | IntronicSNV | - | 12/13 |
6-20657564-A-G | CDKAL1 | c.371+7956A>G | - | IntronicSNV | - | 5/15 |
11-2857194-A-T | KCNQ1 | c.1795-11803A>T | - | IntronicSNV | - | 15/15 |
11-2857194-A-C | KCNQ1 | c.1795-11803A>C | - | IntronicSNV | - | 15/15 |
2-44065090-G-A | ABCG5 | c.148C>T | p.Arg50Cys | Missense | 2/13 | - |
2-44065090-G-T | ABCG5 | c.148C>A | p.Arg50Ser | Missense | 2/13 | - |
1-230294916-C-T | GALNT2 | c.127-19048C>T | - | IntronicSNV | - | 1/15 |
2-21237544-G-A | APOB | c.3697-79C>T | - | IntronicSNV | - | 23/28 |
19-11163562-C-T | SMARCA4 | c.4425-5369C>T | - | IntronicSNV | - | 30/34 |