Table 2.

Summary of GMNN Mutations in Three Unrelated Subjects with Meier-Gorlin Syndrome

Subject	Coordinate (hg19)	Mutation Type	Nucleotide Change	Predicted Amino Acid Change	Exon	Inheritance	ExAC Frequency	Mutation Taster	ESE Finder
1	Chr6: 24777490	Stop gain	c.16A>T	p.Lys6∗	2 a	de novo	NRb	deleterious	NAd
2	Chr6: 24777509-24777512	Frameshift deletion	c.35_38delTCAA	p.Ile12Lysfs∗4	2 a	de novo	NRb	deleterious	NAd
3	Chr6: 24777524	Missense	c.50A>G	p.Lys17Arg	2 a	de novo	NRb	deleteriousc	Elimination of SRSF5

^aExon 2 is the first coding exon for GenBank NM_015895.4.

^bNR, not reported.

^cPredicted to affect downstream splicing at the exon 2 and intron 2 boundary.

^dNA, not applicable.