Table 2.
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 |
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 |