Table 2.
CCM1, CCM2, and CCM3 polymorphisms.
| Exon | Sequence variation | Coding change | SNP reference |
|
|---|---|---|---|---|
| CCM1 | 10 | c.989+63 C>G | Intronic | rs2027950 |
| IVS10+63 C>G | ||||
| 16 | c.1731−90 G>C | Intronic | rs58251940 | |
| IVS15−90 G>C | ||||
| 17 | c.1980 A>G | p.V660V | rs11542682 | |
|
| ||||
| CCM2 | 2 | c.157 G>A | p.Val53Ile | rs2107732 |
| 3 | c.205−36 A>G | Intronic | rs2304689 | |
| IVS2−36 A>G | ||||
| 4 | c.358 G>A |
p.Val120Ile | rs11552377 | |
| 4 | c.472+127 C>T | Intronic | rs73107990 |
|
| IVS4+127 C>T | ||||
| 8 | c.881 G>A | p.S294N | rs144648280 | |
| 8 | c.915 G>A | p.Thr305Thr | rs2289367 | |
| 8 | c.915+119 C>T | Intronic | rs2289369 | |
| IVS8+119 C>T | ||||
|
| ||||
| CCM3 | 2 | c.150 G>A | p.K50K | rs116154329 |
| 3 | c.268+53 C>T | Intronic | rs200180968 |
|
| IVS3+53 C>T | ||||