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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