Table 1.
Statistics of mutations in the F9 database.
| Regions | MTs | UMs | % of UMs | PN | % of PN | |
|---|---|---|---|---|---|---|
| Noncoding | Promoter * | Point | 23 | 2.10 | 86 | 2.32 |
| Deletion | 2 | 0.18 | 2 | 0.05 | ||
| Polymorphism | 5 | 0.46 | 5 | 0.13 | ||
| Intron | Point | 86 | 7.86 | 226 | 6.09 | |
| Deletion | 14 | 1.28 | 23 | 0.62 | ||
| Insertion | 2 | 0.18 | 8 | 0.22 | ||
| Indel | 1 | 0.09 | 1 | 0.03 | ||
| Polymorphism | 33 | 3.02 | 33 | 0.89 | ||
| 3′ UTR | Point | 2 | 0.18 | 22 | 0.59 | |
| Duplication | 1 | 0.09 | 1 | 0.03 | ||
| Polymorphism | 2 | 0.18 | 3 | 0.08 | ||
| Coding | Point | 689 | 62.98 | 2937 | 79.10 | |
| Deletion | 145 | 13.25 | 204 | 5.49 | ||
| Insertion | 33 | 3.02 | 38 | 1.02 | ||
| Indel | 15 | 1.37 | 17 | 0.46 | ||
| Duplication | 4 | 0.37 | 4 | 0.11 | ||
| Polymorphism | 11 | 1.01 | 18 | 0.48 | ||
| Multiple Regions | Deletion | 19 | 1.75 | 78 | 2.10 | |
| Insertion | 1 | 0.09 | 1 | 0.03 | ||
| Indel | 1 | 0.09 | 1 | 0.03 | ||
| Complex | 5 | 0.46 | 5 | 0.13 | ||
| Grand total | 1094 | 100 | 3713 | 100 | ||
MTs, mutation types; UMs, unique mutations; PN, patients number. *: Promotor region in this table refers to the genomic sequences located upstream of translation initiation (ATG) in exon 1 of F9 gene. Multiple regions indicate that mutation involves coding and noncoding regions.