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Table 3 The detailed patient data.

From: Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM

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