Table C1.
SNP | Exon | Amino AcidAlteration | Occurrence in12 Individualswith MCPH |
2747C→T | 9 | None | 1 |
3138G→A | 12 | None | 3 |
3714T→C | 15 | None | 1 |
4344A→G | 18 | None | 3 |
4449G→A | 18 | None | 2 |
5856A→G | 18 | None | 1 |
5961A→G | 18 | None | 2 |
7605G→A | 18 | None | 4 |
7674C→T | 18 | None | 3 |
7684A→G | 18 | Ser→Gly | 4 |
7939C→A | 18 | Leu→Ile | 8 |
9395T→G | 22 | Leu→Arg | 3 |