Table 1.
Exon | Nucleotide | Amino acid | Domain | Cases |
---|---|---|---|---|
9 | c.1625A>T | p.E542V | Helical | 1 |
9 | c.1633G>A | p.E545K | Helical | 1 |
9 | c.1634A>C | p.E545A | Helical | 8 |
20 | c.3140A>G | p.H1047R | Kinase | 15 |
Exon | Nucleotide | Amino acid | Domain | Cases |
---|---|---|---|---|
9 | c.1625A>T | p.E542V | Helical | 1 |
9 | c.1633G>A | p.E545K | Helical | 1 |
9 | c.1634A>C | p.E545A | Helical | 8 |
20 | c.3140A>G | p.H1047R | Kinase | 15 |