Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
1-196651832-T-C | CFH | c.791-2362T>C | - | IntronicSNV | - | 6/21 |
11-116662407-G-A | APOA5 | c.56C>T | p.Ser19Leu | Missense | 3/4 | - |
4-110664630-T-C | CFI | c.1430-879A>G | - | IntronicSNV | - | 11/12 |
9-104362937-A-G | GRIN3A | c.2766+12721T>C | - | IntronicSNV | - | 6/8 |
12-109895168-C-G | KCTD10 | c.527+267G>C | - | IntronicSNV | - | 5/6 |
10-124226630-G-T | HTRA1 | c.472+4990G>T | - | IntronicSNV | - | 1/8 |
10-124215315-T-G | ARMS2 | c.297+775T>G | - | IntronicSNV | - | 1/1 |
9-107647655-G-T | ABCA1 | c.161-806C>A | - | IntronicSNV | - | 3/49 |
9-107647655-G-A | ABCA1 | c.161-806C>T | - | IntronicSNV | - | 3/49 |
10-124226630-G-A | HTRA1 | c.472+4990G>A | - | IntronicSNV | - | 1/8 |
10-124231464-G-A | HTRA1 | c.472+9824G>A | - | IntronicSNV | - | 1/8 |
15-58727325-A-G | LIPC | c.88+3006A>G | - | IntronicSNV | - | 1/8 |
1-196686918-G-A | CFH | c.1696+2019G>A | - | IntronicSNV | - | 11/21 |
6-31910938-G-T | C2 | c.1360+62G>T | - | IntronicSNV | - | 10/17 |
10-124215421-C-T | ARMS2 | c.297+881C>T | - | IntronicSNV | - | 1/1 |
1-196709774-G-T | CFH | c.2808G>T | p.Glu936Asp | Missense | 18/22 | - |