TABLE 5.

Parameter estimates

Parameter	Missense	Nonsense	Splice
Selection pressure estimates , and	1.37	4.48	4.59
Selection pressure confidence intervals (95%)	0.76–2.49	2.00–9.99	1.75–12.02
No. of mutations and	58	12	6
Estimated minimum no. of pathogenic mutations and	15.8	9.3	4.7

Selection pressure estimates under hypothesis H₂ with 95% confidence intervals. The minimum numbers of pathogenic mutations are provided for missense, nonsense, and splice site, variants. Mutation counts are summed across mutation types k.