Table 1.

Sample Types Detected

Sample type	Case no.	Genotype no.	Allele no.
Wild-type	113	1	226
Heterozygous	733	21	1466⁎
Homozygous	54	11	108†
Compound heterozygous	122	31	244†
Total	1022	64	2044

^⁎Includes 733 wild-type and 733 mutant alleles comprising 21 mutation types.

^†Mutant alleles comprising 15 mutation types.