Table 3

The detailed patient data.
Case number
 Gender
 Diagnosis
 Result
 Reported/Novel
 HRM result
 FVIII:C
 Severity
69-1
 M
 Affected case
 Exon 1 deletion
 R
<1%
 severe
61-1
 M
 Affected case
 Exon 2, c.185, C>G, TCA>TGA, Ser>X
 N
<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
<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

42-3
 M
 Affected case
 Exon 4, c.403 G>A, GAT>AAT, Asp>Asn
 N
<1%
 severe
59-1
 M
 Affected case
 Exon 4, c.532, C>G, CTT>GTT, Leu>Val
 N
<1%
 severe
118-1
 M
 Affected case
 Exon 4~Exon 10 deletion
 R
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
<1%
 severe
94-1
 M
 Affected case
 Exon 7, c.977 T>C, CTA>CCA, Leu>Pro
 R
<1%
 severe
16-3
 M
 Affected case
 Exon 8, c.1247, C>T, CCC>CTC, Pro>Leu
 N
4.2%
 moderate
101
 F
 Carrier
 Exon 9, c.1310 G>C, CGG>CCG, Arg>Pro
 R
 V

72-1
 M
 Affected case
 Exon 9, c.1315 G>A, GGT>AGT, Gly>Ser
 R
3.0%
 moderate
162
 M
 Affected
 Exon 9, c.1336, C>T, CGA>TGA, Arg>X
 R
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
2.3%
 moderate
92
 M
 Affected case
 Exon 11, c.1648, C>T, CGC>TGC, Arg>Cys
 R
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
6.0%
 mild
10-1
 M
 Affected case
 Exon 14, c.2314 C>T, CAA>TAA, Gln>X
 R
<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


3-1
 M
 Affected case
 Exon 14, c.3629, del A
 R
<1%
 severe
132
 M
 Affected case
 Exon 14, c.4076 G>A, TGG>TAG, Trp>X
 R
0.3%
 severe
87-1
 M
 Affected case
 Exon 14, c.4197 del C
 N
3.0%
 moderate
63-1
 M
 Affected case
 Exon 14, c.4372, del A
 N
3.6%
 moderate
2-1
 M
 Affected case
 Exon 14, c.4619, del T
 N
<1%
 severe
11-1
 F
 Affected case
 Exon14, c.4814, C>A, TCA>TAA, Ser>X
 R
2.0%
 moderate
57-2
 M
 Affected case
 Exon 14, c.4856, del C
 R
<1%
 severe
67-3
 M
 Affected case
 Exon 14, c.4942 C>T, CAA>TAA, Gln>X

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
<1%
 severe
39-3
 M
 Affected case
 Exon 15, c5343 T>A, TATA>TAA, Tyr>X
 N
<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
4.5%
 moderate
97
 M
 Affected case
 Exon 16, c.5465_5466, insA
 N
4.9%
 moderate
55-1
 M
 Affected case
 Exon 16, c.5526, G>A, ATG>ATA, Met>Ile
 R
2.1%
 moderate
5-2
 M
 Affected case
 Exon 16, c.5536, T>A, AAA>TAA, Lys>X
 R
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

56-1
 M
 Affected case
 Exon 17, c.5848, C>T, CGA>CAA, Gln>X
 N
<1%
 severe
1-1
 M
 Affected case
 Exon 18, c.5879, G>A, CGA>CAA, Arg>Gln
 R
7.4%
 mild
133
 M
 Affected case
 Exon 18, c.5879, G>A, CGA>CAA, Arg>Gln
 R
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
<1%
 severe
73
 M
 Affected case
 Exon 22, c.6403, C>T, CGA>TGA, Arg>X
 N
<1%
 severe
14-2
 M
 Affected case
 Exon 23, c.6506, G>A, CGT>CAT, Arg>His
 R
25%
 mild
20-1
 M
 Affected case
 Exon 23, c.6506, G>A, CGT>CAT, Arg>His
 R
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
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
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
<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
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
<1%
 severe
103-1
 F
 Carrier
 Intron 22 inversion
 R


105
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
106-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
112-1
 M
 Affected case
 Intron 22 inversion
 R
1.2%
 moderate
116-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
117
 M
 Affected case
 Intron 22 inversion
 R
3.0%
 moderate
120-1
 M
 Affected case
 Intron 22 inversion
 R
2.0%
 moderate
121
 M
 Affected case
 Intron 22 inversion
 R
0.6%
 severe
126-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
131-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
13-4
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
140
 M
 Affected case
 Intron 22 inversion
 R
1.1%
 moderate
143-1
 M
 Affected case
 Intron 22 inversion
 R
3.0%
 moderate
147
 M
 Affected case
 Intron 22 inversion
 R
0.5%
 severe
149-2
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
151
 M
 Affected case
 Intron 22 inversion
 R
1.4%
 moderate
15-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
152
 M
 Affected case
 Intron 22 inversion
 R
2.1%
 moderate
153
 M
 Affected case
 Intron 22 inversion
 R
1.8%
 moderate
154
 M
 Affected case
 Intron 22 inversion
 R
0.5%
 severe
155
 M
 Affected case
 Intron 22 inversion
 R
1.7%
 moderate
156
 M
 Affected case
 Intron 22 inversion
 R
1.8%
 moderate
164
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
167
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
181
 M
 Affected case
 Intron 22 inversion
 R
3.0%
 moderate
31-7
 F
 Carrier
 Intron 22 inversion
 R


33-3
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
34-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
35-1
 M
 Affected case
 Intron 22 inversion
 R
3.0%
 moderate
40-2
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
47-1
 M
 Affected case
 Intron 22 inversion
 R
3.2%
 moderate
58-3
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
60-1
 M
 Affected case
 Intron 22 inversion
 R
1.6%
 moderate
6-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
51-1
 M
 Affected case
 Intron 22 inversion
 R
2.7%
 moderate
62-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
64-2
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
68-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
70-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
75-2
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
76-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
77-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
81
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
86-2
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
88-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
89-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
90
 M
 Affected case
 Intron 22 inversion
 R
0.8%
 severe
91
 M
 Affected case
 Intron 22 inversion
 R
1.1%
 moderate
9-1
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
96-2
 M
 Affected case
 Intron 22 inversion
 R
0.5%
 severe
99
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe
148
 M
 Affected case
 Intron 22 inversion
 R
<1%
 severe

Lin et al. BMC Medical Genetics 2008 9:53   doi:10.1186/1471-2350-9-53