. 2019 Nov 29;57(3):195–202. doi: 10.1136/jmedgenet-2019-106396

Table 1.

Variants identified in DONSON in individuals with Meier-Gorlin syndrome

Patient	Variant 1	gnomAD MAF	Variant 2	gnomAD MAF	Segregation
P1	c.631C>T, p.Arg211Cys	NA	c.631C>T, p.Arg211Cys	NA	Both parents heterozygous.
P2	c.494T>C, p.Phe165Ser	0.00001768	c.607–36G>A (splicing)	0.00005540	Mother heterozygous for c.706–36G>A, homozygous reference for c.494T>C, p.Phe165Ser.
P3	c.1634C>T, p.Pro545Leu	0.00001061	c.809A>G, p.Tyr270Cys	0.00001599	No parents available.
P4	c.670C>T, p.Pro224Ser	0.00006369	c.809A>G, p.Tyr270Cys	0.00001599	No parents available.