From: Three novel F8 mutations in sporadic haemophilia A cases
Sr. # | Patient | Exon | SNP ambiguity | SNP | Codon | Codon# | Comments | Accession number |
---|---|---|---|---|---|---|---|---|
1 | All 62 Samples | 2 | W: A/T | A/A | GA T | 75 | European = T/T | rs1800288 |
2 | All 62 Samples | 7 | K: G/T | G/G | TGG | 274 | European = C/C; Spanish Caucasians = C(0.995)/A(0.005); African American, Chinese, Southeast Asia, Mexican Indian = C/A | rs34371500 |
3 | All 62 Samples | 8 | R: G/A | G/G | CG C | 391 | Ancestral: G | rs137852364 |
4 | All 62 Samples | 8 | Y: T/C | T/T | T CA | 392 | European = C/C | rs28933669 |
5 | All 62 Samples | 8 | Y: C/T | C/C | TC A | 392 | ? | rs28933668 |
6 | All 62 Samples | 8 | K: T/G | T/T | AT T | 405 | European = A/A | rs28933670 |
7 | All 62 Samples | 8 | R: A/G | A/A | GA G | 409 | ? | rs28933671 |
8 | All 62 Samples | 9 | K: G/T | T/T | TTG | 431 | Ancestral: G | rs28933672 |
9 | All 62 Samples | 9 | R: A/G | A/A | AA A | 444 | Ancestral: G | rs28937272 |
10 | All 62 Samples | 9 | W: T/A | T/T | T AC | 450 | Ancestral: A | rs111033616 |
11 | All 62 Samples | 10 | R: G/A | G/G | CG T | 503 | Ancestral: A | rs35383156 |
12 | All 62 Samples | 12 | Y: T/C | T/T | CTT | 622 | Ancestral: T | rs1800290 |
13 | All 62 samples | 15 | R: G/A | G/G | CAG | 1764 | Ancestral: A | rs5986891 |
14 | All 62 samples | 16 | R: G/A | G/G | ATG | 1842 | European = G/G | rs28943674 |
15 | All 62 samples | 16 | Y: C/T | C/C | C CC | 1844 | European = C/C | rs28933675 |
16 | All 62 samples | 16 | M: A/C | A/A | A CT | 1845 | ? | rs28933676 |
17 | All 62 samples | 16 | Y: C/T | C/C | GC C | 1853 | European = C/C | rs28933677 |
18 | All 62 samples | 17 | D: G/A/T | G/G | GAT | 1865 | Not Available | CI076951 |
19 | All 62 samples | 17 | R: A/G | A/A | CA C | 1867 | Ancestral: G | rs28933679 |
20 | All 62 samples | 17 | S: C/G | C/C | CC C | 1873 | European = G/G | rs28933680 |
21 | All 62 samples | 17 | R: G/A | G/G | G AG | 1904 | European = C/C | rs28933681 |
22 | All 62 samples | 17 | S: G/C | G/G | TG C | 1922 | European = G/G | rs4384155 |
23 | All 62 samples | 17 | S: C/G | C/C | TGC | 1922 | European = C/C | rs4520342 |
24 | All 62 samples | 18 | R: A/G | A/A | AAT | 1940 | ? | CM083806 |
25 | All 62 samples | 18 | D: G/A/T | G/G | CG A | 1960 | ? | rs28937294 |
26 | All 62 samples | 18 | R: G/A | G/G | GGC | 1967 | ? | rs111033615 |
27 | All 62 samples | 24 | Y: C/T | C/C | TAC | 2214 | Ancestral: C | rs1800296 |