Table 2.

Genetic analysis results of 30 children with NR5A1 mutations.

ID	Nucleotide Mutation	Amino acid Mutation	Exon	Mutants From	ACMG classification	Domain
1	c.63C > T	p.S21F	Exon 2	De novo	Uncertain significance	DBD
2	c.86C > T	p.T29M	Exon 2	De novo	Pathogenic	DBD
3	c.274C > T	p.R92W	Exon 4	De novo	Pathogenic	DBD
4	c.319C > T	pQ107∗	Exon 4	De novo	Pathogenic	DBD
5	c.305-310del	p.104-105del	Exon 4	De novo	Pathogenic	DBD
6	c.645_c.646insG	p.P216Afs∗10	Exon 4	Mother	Pathogenic	Hinge Region
7	c.937C > T	p.R313C	Exon 5	De novo	Pathogenic	LBD
8	c.937C > T	p.R313C	Exon 5	De novo	Pathogenic	LBD
9	c.1052C > A	p.A351E	Exon 6	Mother	Pathogenic	LBD
10	c.1273delG	p.E425Rfs∗5	Exon 7	De novo	Pathogenic	LBD
11	c.1289G > T	p.S430I	Exon 7	De novo	Likely pathogenic	LBD
12	c.1236C > A	p.Cys412∗	Exon 7	Mother	Pathogenic	LBD
13	c.1138 + 1G > A	–	–	De novo	Pathogenic	–
14	c.245-2A > T	–	–	De novo	Pathogenic	–
15	c.982G > A	p.G328R	Exon 5	De novo	Pathogenic	LBD
16	3G > A	P.M1I	Exon 2	Mother	Pathogenic	DBD
17	c.1250delA	p.Q417Rfs∗13	Exon 7	De novo	Pathogenic	LBD
18	c.99C > A	p.C33X	Exon 2	Mother	Pathogenic	DBD
19	c.938G > A	p.R313H	Exon 5	De novo	Pathogenic	LBD
20	c.76G > A	p.G26R	Exon 2	De novo	Uncertain significance	DBD
21	247G > a	p.V83M	Exon 4	De novo	Uncertain significance	DBD
22	c.250C > T	p.R84C	Exon 4	Father	Likely pathogenic	DBD
23	c.259C > T	p.R87C	Exon 4	De novo	Likely pathogenic	DBD
24	c.259C > T	p.R87C	Exon 4	De novo	Likely pathogenic	DBD
25	c.259C > T	p.R87C	Exon 4	De novo	Likely pathogenic	DBD
26	c.614dupC	p.P206Tfs∗20	Exon 4	De novo	Pathogenic	Hinge Region
27	c.603T > A	p.Y201X	Exon 4	De novo	Pathogenic	Hinge Region
28	c.937C > T	p.R313C	Exon 5	De novo	Pathogenic	LBD
29	c.877G > A	p.D293N	Exon 5	De novo	Uncertain significance	LBD
30	c.756C > A	p.T252 =	Exon 4	De novo	Uncertain significance	LBD

The bold values mean the most frequency mutations.