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. 2020 Mar 14;11(3):313. doi: 10.3390/genes11030313

Table 2.

Details of three private protein-changing candidate variants.

Chr. Position Ref. Alt. Gene HGVS-c HGVS-p
5 41,681,870 G A SREBF1 c.1678G>A p.Gly560Ser
27 3,744,738 C T LOC106557897 c.443G>A p.Arg148His
27 16,157,324 G A YARS2 c.1054G>A p.Glu352Lys