New diagnostic mutations
/The following diagnostic mutations have been added to the list
| Exon | Nucleotide | Aminoacid |
|---|---|---|
| 2 | c.130C>T | p.Arg44Cys |
| 11 | c.982C>T | p.Arg328Trp |
| 11 | c.1021G>C | p.Gly341Arg |
| 15 | c.1597C>T | p.Arg533Cys |
| 15 | c.1598G>A | p.Arg533His |
| 47 | c.7522C>A | p.Arg2508Gly |
