Case number | Gender | Diagnosis | Result | Reported/Novel | HRM result | FVIII:C | Severity |
---|---|---|---|---|---|---|---|
69-1 | M | Affected case | Exon 1 deletion | R | Â | <1% | severe |
61-1 | M | Affected case | Exon 2, c.185, C>G, TCA>TGA, Ser>X | N | Â | <1% | severe |
109 | M | Affected case | Exon 3, c.278, C>T, CCT>CTT, Pro>Leu | N | V | <1% | severe |
82 | M | Affected case | Exon 3, c.278, C>T, CCT>CTT, Pro>Leu | N | Â | <1% | severe |
144 | M | Affected case | Exon 3, c.336_339, dup CCAT | N | indistinguishable | 1.6% | moderate |
71-1 | F | Carrier | Intron 3, c.289-9 C>T | N | V | Â | Â |
42-3 | M | Affected case | Exon 4, c.403 G>A, GAT>AAT, Asp>Asn | N | Â | <1% | severe |
59-1 | M | Affected case | Exon 4, c.532, C>G, CTT>GTT, Leu>Val | N | Â | <1% | severe |
118-1 | M | Affected case | Exon 4~Exon 10 deletion | R | Â | 1.1% | moderate |
122 | M | Affected case | Exon 7, c.829, A>G, ATT>GTT, Asp>Gly | N | V | 12% | muld |
114 | M | Affected case | Exon 7, c.854_855, ins G | N | V | 2.4% | moderate |
79-1 | M | Affected case | Exon 7, c.977 T>C, CTA>CCA, Leu>Pro | R | Â | <1% | severe |
94-1 | M | Affected case | Exon 7, c.977 T>C, CTA>CCA, Leu>Pro | R | Â | <1% | severe |
16-3 | M | Affected case | Exon 8, c.1247, C>T, CCC>CTC, Pro>Leu | N | Â | 4.2% | moderate |
101 | F | Carrier | Exon 9, c.1310 G>C, CGG>CCG, Arg>Pro | R | V | Â | Â |
72-1 | M | Affected case | Exon 9, c.1315 G>A, GGT>AGT, Gly>Ser | R | Â | 3.0% | moderate |
162 | M | Affected | Exon 9, c.1336, C>T, CGA>TGA, Arg>X | R | Â | 4.8% | moderate |
110 | M | Affected case | Exon 9, c.1400, T>G, ATC>AGC, Ile>Ser | N | V | 0.6% | severe |
65 | M | Affected case | Exon 11, c.1636, C>T, CGG>TGG, Arg>Trp | R | Â | 2.3% | moderate |
92 | M | Affected case | Exon 11, c.1648, C>T, CGC>TGC, Arg>Cys | R | Â | 12.0% | mild |
136 | M | Affected case | Exon 11, c.1678, A>G, AGA>GAA, Arg>Gly | N | V | 11.0% | moderate |
98 | M | Affected case | Exon 12, c.1783_1790 del 8 mer | N | V | <1% | severe |
119 | M | Affected case | Exon 12, c.1804, C>T, CGA>TGA.Arg>X | R | V | 1.5% | moderate |
150-1 | M | Affected case | Exon 12, c.1834, C>T, CGC>TGC, Arg>Cys | R | Â | 6.0% | mild |
10-1 | M | Affected case | Exon 14, c.2314 C>T, CAA>TAA, Gln>X | R | Â | <1% | severe |
104-1 | M | Affected case | Exon 14, c.2605_2606, ins C | N | V | <1% | severe |
113-1 | M | Affected case | Exon 14, c.2609_2610, del CT | R | V | <1% | severe |
85-1 | M | Affected case | Exon 14, c.2939_2940, ins G | N | V | <1% | severe |
124 | M | Affected case | Exon 14, c.3294_3295, ins A | N | V | 0.2% | severe |
111 | M | Affected case | Exon 14, c.3629, del A | R | V | <1% | severe |
17-1 | F | Carrier | Exon 14, c.3629, del A | R | Â | Â | Â |
3-1 | M | Affected case | Exon 14, c.3629, del A | R | Â | <1% | severe |
132 | M | Affected case | Exon 14, c.4076 G>A, TGG>TAG, Trp>X | R | Â | 0.3% | severe |
87-1 | M | Affected case | Exon 14, c.4197 del C | N | Â | 3.0% | moderate |
63-1 | M | Affected case | Exon 14, c.4372, del A | N | Â | 3.6% | moderate |
2-1 | M | Affected case | Exon 14, c.4619, del T | N | Â | <1% | severe |
11-1 | F | Affected case | Exon14, c.4814, C>A, TCA>TAA, Ser>X | R | Â | 2.0% | moderate |
57-2 | M | Affected case | Exon 14, c.4856, del C | R | Â | <1% | severe |
67-3 | M | Affected case | Exon 14, c.4942 C>T, CAA>TAA, Gln>X | Â | Â | 2.6% | moderate |
115-1 | M | Affected case | Exon 14, c.5069_5073, del 5 mer | R | V | <1% | severe |
74 | M | Affected case | Exon14, c.5143, C>T, CGA>TGA, Arg>X | N | Â | <1% | severe |
39-3 | M | Affected case | Exon 15, c5343 T>A, TATA>TAA, Tyr>X | N | Â | <1% | severe |
48-5 | M | Affected case | Exon 15, c.5353, G>A, GAA>AAA, Glu>Lys | N | V | 3.7% | moderate |
159-2 | M | Affected case | Exon 16, c.5399, G>A, CGT>CAT, Arg>His | R | Â | 4.5% | moderate |
97 | M | Affected case | Exon 16, c.5465_5466, insA | N | Â | 4.9% | moderate |
55-1 | M | Affected case | Exon 16, c.5526, G>A, ATG>ATA, Met>Ile | R | Â | 2.1% | moderate |
5-2 | M | Affected case | Exon 16, c.5536, T>A, AAA>TAA, Lys>X | R | Â | 1.6% | moderate |
123 | M | Affected case | Exon 16, c.5576, A>G, GAT>GGT, Asp>Gly | N | indistinguishable | 1.3% | moderate |
161-1 | F | Carrier | Exon 17, c.5711, A>G, GAG>GGG, Glu>Gly | N | V | Â | Â |
56-1 | M | Affected case | Exon 17, c.5848, C>T, CGA>CAA, Gln>X | N | Â | <1% | severe |
1-1 | M | Affected case | Exon 18, c.5879, G>A, CGA>CAA, Arg>Gln | R | Â | 7.4% | mild |
133 | M | Affected case | Exon 18, c.5879, G>A, CGA>CAA, Arg>Gln | R | Â | 5.5% | mild |
107-1 | M | Affected case | Exon 18, c.5953, C>T, CGA>TGA, Arg>X | R | V | 0.8% | severe |
138-2 | M | Affected case | Exon 18, c.5953, C>T, CGA>TGA, Arg>X | R | Â | <1% | severe |
73 | M | Affected case | Exon 22, c.6403, C>T, CGA>TGA, Arg>X | N | Â | <1% | severe |
14-2 | M | Affected case | Exon 23, c.6506, G>A, CGT>CAT, Arg>His | R | Â | 25% | mild |
20-1 | M | Affected case | Exon 23, c.6506, G>A, CGT>CAT, Arg>His | R | Â | 2.9% | moderate |
139-1 | M | Affected case | Exon 23, c.6506, G>A, CGT>CAT, Arg>His | R | V | 3.0% | moderate |
125 | M | Affected case | Exon 23, c.6532, C>T, CGC>TGC, Arg>Cys | R | Â | 6.5% | mild |
170-1 | M | Affected case | Exon 23, c.6532 C>T, CGC>TGC, Arg>Cys | R | V | 8.9% | mild |
174-1 | M | Affected case | Exon 23, c.6532 C>T, CGC>TGC, Arg>Cys | R | V | 8.4% | mild |
95-1 | M | Affected case | Exon 23, c.6545, G>A, CGC>CAC, Arg>His | R | V | 2.5% | moderate |
38-3 | M | Affected case | Exon 24, c. 6575 G>T, AGT>ATT, Ser>Ile | R | Â | 7.2% | mild |
102-1 | M | Affected case | Exon 24, c.6671, C>T, CCT>CTT, Pro>Leu | R | V | 2.7% | moderate |
12-1 | F | Affected case | Exon 24, c.6683 G>A, CGA> CAA, Arg>Gln | R | Â | <1% | severe |
41-3 | M | Affected case | Exon 25, c.6724, G>A, GTG>ATG, Val>Met; Exon 8, c.1172, G>A, CGC>CAC, Arg>His | R;R | indistibuishable; V | <1% | severe |
84-1 | M | Affected case | Exon 25, c.6794_6795 del AG | R | indistinguishable | <1% | severe |
93-1 | M | Affected case | Intron 1 inversion | R | Â | 12.0% | mild |
21-1 | M | Affected case | Intron 22 inversion/Exon14 c.4531, G>A, GTT>ATT, Val>Ile | R;N | V | <1% | severe |
100 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
103-1 | F | Carrier | Intron 22 inversion | R | Â | Â | Â |
105 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
106-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
112-1 | M | Affected case | Intron 22 inversion | R | Â | 1.2% | moderate |
116-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
117 | M | Affected case | Intron 22 inversion | R | Â | 3.0% | moderate |
120-1 | M | Affected case | Intron 22 inversion | R | Â | 2.0% | moderate |
121 | M | Affected case | Intron 22 inversion | R | Â | 0.6% | severe |
126-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
131-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
13-4 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
140 | M | Affected case | Intron 22 inversion | R | Â | 1.1% | moderate |
143-1 | M | Affected case | Intron 22 inversion | R | Â | 3.0% | moderate |
147 | M | Affected case | Intron 22 inversion | R | Â | 0.5% | severe |
149-2 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
151 | M | Affected case | Intron 22 inversion | R | Â | 1.4% | moderate |
15-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
152 | M | Affected case | Intron 22 inversion | R | Â | 2.1% | moderate |
153 | M | Affected case | Intron 22 inversion | R | Â | 1.8% | moderate |
154 | M | Affected case | Intron 22 inversion | R | Â | 0.5% | severe |
155 | M | Affected case | Intron 22 inversion | R | Â | 1.7% | moderate |
156 | M | Affected case | Intron 22 inversion | R | Â | 1.8% | moderate |
164 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
167 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
181 | M | Affected case | Intron 22 inversion | R | Â | 3.0% | moderate |
31-7 | F | Carrier | Intron 22 inversion | R | Â | Â | Â |
33-3 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
34-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
35-1 | M | Affected case | Intron 22 inversion | R | Â | 3.0% | moderate |
40-2 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
47-1 | M | Affected case | Intron 22 inversion | R | Â | 3.2% | moderate |
58-3 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
60-1 | M | Affected case | Intron 22 inversion | R | Â | 1.6% | moderate |
6-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
51-1 | M | Affected case | Intron 22 inversion | R | Â | 2.7% | moderate |
62-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
64-2 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
68-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
70-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
75-2 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
76-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
77-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
81 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
86-2 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
88-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
89-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
90 | M | Affected case | Intron 22 inversion | R | Â | 0.8% | severe |
91 | M | Affected case | Intron 22 inversion | R | Â | 1.1% | moderate |
9-1 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
96-2 | M | Affected case | Intron 22 inversion | R | Â | 0.5% | severe |
99 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |
148 | M | Affected case | Intron 22 inversion | R | Â | <1% | severe |