Variant Information

Gene Coordinates (GRCh37) Coordinates (GRCh38) Nucleotide Protein Interpretation
PHF6 chrX:133511668 chrX:134377638 c.22dupA p.G10Rfs*12 Pathogenic
PHF6 chrX:133549044 chrX:134415014 c.730_731delGTT p.L244Vfs*20 Pathogenic