Table 1 Children cohort and parent’s cohort with estimated affected frequency by three methods

Total number

20,905

10,038

Gender (Male/female)

12,773/8132

5012/5026

CES/WES

15,869/5036

334/9704

Heterozygous of P/LP variants

110 (73 males, 37 females)

60 (38 males, 22 females)

Carrier frequency

1/190

1/167

Couple’s carrier risk

1/36,117

1/27,989

Method 1: estimated affected frequency by carrier frequency

1/144,469

1/111,957

Method 2: estimated affected frequency by permutation-and-combination

1/153,825

1/120,528

Method 3: estimated affected frequency by Bayesian framework (95% confidence interval)

1/143,171 (1/213,769–1/101,160)

1/110,127 (1/192,111–1/69,638)

Average estimated prevalence (mean value of the above six frequencies)

1/128,434