g.180151339G>Ag.180151339G>A
c.637G>Ac.637G>A
p.Val213Metp.Val213Met
possibly damagingpossibly damaging
g.180124188C>Ag.180124188C>A
c.146C>Ac.146C>A
p.Thr49Lysp.Thr49Lys