Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| U2AF1 | chr21:44524456 | chr21:43104346 | c.101C>T | p.S34F | Pathogenic |
| U2AF1 | chr21:44514780 | chr21:43094670 | c.467G>A | p.Arg156His | Pathogenic |
| U2AF1 | chr21:44514777 | chr21:43094667 | c.470A>G | p.Q157R | Pathogenic |