g.16464614G>Ag.16464614G>A
c.1046C>Tc.1046C>T
p.Thr349Metp.Thr349Met
possibly damagingpossibly damaging
g.16460396C>Tg.16460396C>T
c.1697G>Ac.1697G>A
p.Arg566Hisp.Arg566His
benignbenign
g.16464503G>Tg.16464503G>T
c.1157C>Ac.1157C>A
p.Ser386Xp.Ser386X
damagingdamaging