New diagnostic mutations
/The list of diagnostic mutations has just been expanded and now totals to 42. Those just added are:
| # | Exon | Nucleotide | Aminoacid |
|---|---|---|---|
| 7 | 12 | c.1201C>T | p.401Arg>Cys |
| 20 | 44 | c.7042_7044del | p.2348Gln>del |
| 22 | 44 | c.7063C>T | p.2355Arg>Trp |
| 34 | 63 | c.9310G>A | p.3104Glu>Lys |
| 35 | 84 | c.11969G>T | p.3990Gly>Val |
| 40 | 101 | c.14545G>A | p.4849Val>Ile |
