News

18.11.2017

List of diagnostic mutations expanded

The list of diagnostic mutations has just been expanded and now totals to 46. Those just added are:

 

#ExonNucleotideAminoacid
712c.1201C>Tp.401Arg>Cys
2044c.7042_7044delp.2348Gln>del
2244c.7063C>Tp.2355Arg>Trp
3463c.9310G>Ap.3104Glu>Lys
3584c.11969G>Tp.3990Gly>Val
40101c.14545G>Ap.4849Val>Ile