Table 4.

Observation of NPR2 nonsynonymous variants in four cohorts

Cohort	Observation of nonsynonymous variants	Note
Short stature patients and FHS controls	7 variants in 192 short stature patients 0 variant in 192 FHS controls	Patient 1: de novo mutation Patients 2–4: all heterozygous relatives had short stature (height SDS < −2) Patient 5: variant not present in average height mother and father’s DNA unavailable Patient 6: variant not present in short mother and father’s DNA unavailable Patient 7: no family data available
Second short stature cohort	4 variants in 216 short stature patients	No control samples
Extremes of FINRISK height distribution	0 variant in 136 short extremes 2 variants in 136 tall extremes	No family data available
Extremes of Estonian Biobank height distribution	3 variants in 500 short extremes 0 variant in 500 tall extremes	No family data available