Table 2 Mutations of 16 patients in CYP21A2 gene

1

c.293–13 C > G

Intron2

In2G

c.293–13 C > G

Intron2

In2G

2

c.1451-1452delGGinsC

Exon10

Arg484Profs

E1-7 Del

Exon1-7

-

3

c.293–13 C > G

Intron2

In2G

c.293–13 C > G

Intron2

In2G

4

c.949 C > T

Exon8

Arg319*

E1-10 Del

Exon1-10

-

5

c.293–13 C > G

Intron2

In2G

c.293–13 C > G

Intron2

In2G

6

c.293–13 C > G

Intron2

In2G

c.293–13 C > G

Intron2

In2G

7

c.710 T > A

Exon6

I1e237Asn

E1-3 Del

Exon1-3

-

8

c.293–13 C > G

Intron2

In2G

E1-3 Del

Exon1-3

-

9

c.710T > A;

c.713T > A;

c.719T > A

Exon6

I1e237Asn;

Val238Glu;

Met240Lys

c.1069 C > T

Exon8

Arg357Trp

10

c.293–13 C > G

Intron2

In2G

c.1069 C > T

Exon8

Arg357Trp

11

c.518T > A

Exon4

Ile173Asn

c.955 C > T

Exon8

Gln319*

12

c.518T > A

Exon4

Ile173Asn

c.606G > A

Exon5

Trp202*

13

c.518T > A; c.79 A > G

Exon4;

Exon1

Ile173Asn;

Ser27Gly

E4-7 Del

Exon4-7

-

14

c.518T > A

Exon4

Ile173Asn

c.293–13 C > G

Intron2

In2G

15

c.518T > A

Exon4

Ile173Asn

c.1225 C > G

Exon10

Arg409Gly

16

c.518T > A

Exon4

Ile173Asn

c.1306 C > T

Exon10

Arg434Cys