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. 2021 Nov 15;10(11):3178. doi: 10.3390/cells10113178

Table 2.

Variants information.

Gene Name Chr.
Coordinate		 cDNA
Position 1 		Protein
Position		 Variant Effect ACMG
Classification		 Population
Frequency 4
GDF2 Chr10:48416366 c.328C > T p.(Arg110Trp) Missense LP 2 Absent
GDF2 Chr10:48414423 c.445G > A p.(Glu149Lys) Missense VUS 3 Absent

1 The version of the reference genome used is hg19. The transcript used for variant annotation is: GDF2 (NM_016204.4); 2 VUS: Variant of unknown significance. 3 LP: likely pathogenic. 4 Population frequency was obtained from gnomAD genomes (European non-Finnish).