Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
9-117816230-C-T | TNC | c.4579+3202G>A | - | IntronicSNV | - | 15/27 |
1-63049819-G-A | DOCK7 | c.1801-894C>T | - | IntronicSNV | - | 15/48 |
2-133532709-G-A | NCKAP5 | c.1093-1242C>T | - | IntronicSNV | - | 13/17 |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
12-40323641-G-T | SLC2A13 | c.1034+21418C>A | - | IntronicSNV | - | 4/9 |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
4-9966380-A-G | SLC2A9 | c.594+15836T>C | - | IntronicSNV | - | 6/12 |
14-55897538-A-G | TBPL2 | c.789-1846T>C | - | IntronicSNV | - | 4/6 |
19-45477381-G-A | CLPTM1 | c.310-315G>A | - | IntronicSNV | - | 3/13 |
4-9994215-C-T | SLC2A9 | c.323+4190G>A | - | IntronicSNV | - | 4/12 |
19-11227602-C-T | LDLR | c.1773C>T | p.Asn591Asn | Synonymous | 12/18 | - |
11-116652423-G-A | ZPR1 | c.1179+451C>T | - | IntronicSNV | - | 12/13 |
11-116652423-G-T | ZPR1 | c.1179+451C>A | - | IntronicSNV | - | 12/13 |
5-52382218-C-G | ITGA2 | c.3259-564C>G | - | IntronicSNV | - | 27/29 |
1-169564745-G-A | SELP | c.2101+418C>T | - | IntronicSNV | - | 12/16 |
11-116652423-G-C | ZPR1 | c.1179+451C>G | - | IntronicSNV | - | 12/13 |
1-109814880-C-T | CELSR2 | c.7927-20C>T | - | IntronicSNV | - | 28/33 |
7-72877166-T-C | BAZ1B | c.3249+86A>G | - | IntronicSNV | - | 12/19 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |