Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
11-117039325-T-A | PAFAH1B2 | c.*910T>A | - | 3-UTRSNV | 6/6 | - |
11-117035319-A-G | PAFAH1B2 | c.411+711A>G | - | IntronicSNV | - | 5/5 |
2-27743154-A-G | GCKR | c.1572+1350A>G | - | IntronicSNV | - | 17/18 |
11-116755584-G-A | SIK3 | c.866-7826C>T | - | intron_variant | - | 6/23 |
11-122526601-C-T | UBASH3B | c.1-157C>T | - | 5-UTRSNV | 1/14 | - |
15-58724524-A-G | LIPC | c.88+205A>G | - | IntronicSNV | - | 1/8 |
2-27741237-T-C | GCKR | c.1423-418T>C | - | IntronicSNV | - | 16/18 |
11-116748221-G-T | SIK3 | c.866-463C>A | - | intron_variant | - | 6/23 |
9-107657070-G-A | ABCA1 | c.67-5594C>T | - | IntronicSNV | - | 2/49 |
11-116784692-T-C | SIK3 | c.616+13243A>G | - | intron_variant | - | 4/23 |
12-111646853-C-G | CUX2 | c.64-5151C>G | - | IntronicSNV | - | 1/21 |
12-111610723-T-A | CUX2 | c.64-41281T>A | - | IntronicSNV | - | 1/21 |
12-111598202-C-T | CUX2 | c.64-53802C>T | - | IntronicSNV | - | 1/21 |
12-111754597-T-C | CUX2 | c.2003-3219T>C | - | IntronicSNV | - | 16/21 |
12-111779792-C-T | CUX2 | c.3594C>T | p.Ile1198Ile | Synonymous | 21/22 | - |
15-58724383-A-G | LIPC | c.88+64A>G | - | IntronicSNV | - | 1/8 |
11-117075566-C-T | TAGLN | c.*491C>T | - | IntergenicSNV | 5/5 | - |
8-19813702-G-A | LPL | c.1018+108G>A | - | IntronicSNV | - | 6/9 |
11-116756183-G-A | SIK3 | c.866-8425C>T | - | intron_variant | - | 6/23 |
11-122526601-C-G | UBASH3B | c.1-157C>G | - | 5-UTRSNV | 1/14 | - |
12-111737115-T-C | CUX2 | c.753+722T>C | - | IntronicSNV | - | 9/21 |
12-111723739-G-A | CUX2 | c.302-5483G>A | - | IntronicSNV | - | 4/21 |
12-111786892-T-C | CUX2 | c.*763T>C | - | 3-UTRSNV | 22/22 | - |
9-107653426-G-A | ABCA1 | c.67-1950C>T | - | IntronicSNV | - | 2/49 |
12-111614736-T-A | CUX2 | c.64-37268T>A | - | IntronicSNV | - | 1/21 |
12-111598202-C-G | CUX2 | c.64-53802C>G | - | IntronicSNV | - | 1/21 |
12-111614736-T-C | CUX2 | c.64-37268T>C | - | IntronicSNV | - | 1/21 |
8-19812812-C-T | LPL | c.776-540C>T | - | IntronicSNV | - | 5/9 |
11-116766899-T-C | SIK3 | c.865+70A>G | - | intron_variant | - | 6/23 |
8-19813702-G-T | LPL | c.1018+108G>T | - | IntronicSNV | - | 6/9 |
11-116654435-C-T | ZPR1 | c.892-100G>A | - | IntronicSNV | - | 9/13 |
11-122540528-G-T | UBASH3B | c.161+13610G>T | - | IntronicSNV | - | 1/13 |
2-27729480-G-A | GCKR | c.968+34G>A | - | IntronicSNV | - | 11/18 |
12-111639456-G-C | CUX2 | c.64-12548G>C | - | IntronicSNV | - | 1/21 |
12-111639456-G-T | CUX2 | c.64-12548G>T | - | IntronicSNV | - | 1/21 |
11-117039325-T-G | PAFAH1B2 | c.*910T>G | - | 3-UTRSNV | 6/6 | - |
12-111634281-T-G | CUX2 | c.64-17723T>G | - | IntronicSNV | - | 1/21 |
12-111634281-T-A | CUX2 | c.64-17723T>A | - | IntronicSNV | - | 1/21 |
12-111679214-C-T | CUX2 | c.223-22351C>T | - | IntronicSNV | - | 3/21 |
12-111690579-T-C | CUX2 | c.223-10986T>C | - | IntronicSNV | - | 3/21 |
12-111646519-A-T | CUX2 | c.64-5485A>T | - | IntronicSNV | - | 1/21 |
11-122540281-G-A | UBASH3B | c.161+13363G>A | - | IntronicSNV | - | 1/13 |
12-111716376-C-T | CUX2 | c.302-12846C>T | - | IntronicSNV | - | 4/21 |
12-111716376-C-G | CUX2 | c.302-12846C>G | - | IntronicSNV | - | 4/21 |
11-117034729-T-C | PAFAH1B2 | c.411+121T>C | - | IntronicSNV | - | 5/5 |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |