Table 3A.

Continued

Genotype	Copy 1	Copy 2	Copy 3	Phenotype
				SW	SV	NC
	p.V281L	p.P482S				1
	p.P30L	Deletion				1
	p.P30L	IVS2-13A/C>G				1
	p.P30L	p.I172N				1
	p.P453S	p.I172N				1
Group D	IVS2-13A/C>G	p.R408Hd			2e
	IVS2-13A/C>G	Undeterminedh			1
	p.l172N, p.P453S	Deletion			1
Total				110	56	47

^aTwo pairs of siblings included; 

^bnovel mutation; 

^cincludes set of three siblings; 

^dCYP21A2 duplication, distribution of mutations among alleles is unknown due to lack of DNA; 

^eone pair of siblings included; 

^ffive pairs of siblings included; 

^gsiblings with different phenotypes included; 

^hundetermined due to lack of patient DNA.