g.227172295T>Ag.227172295T>A
c.1445T>Ac.1445T>A
p.Phe482Tyrp.Phe482Tyr
possibly damagingpossibly damaging
g.227171556G>Tg.227171556G>T
c.1256+1G>Tc.1256+1G>T
p.R419_splicep.R419_splice
damagingdamaging