g.158549273G>Tg.158549273G>T
c.417C>Ac.417C>A
p.Phe139Leup.Phe139Leu
probably damagingprobably damaging
g.158549056C>Ag.158549056C>A
c.634G>Tc.634G>T
p.Glu212Xp.Glu212X
damagingdamaging
g.158549543A>Tg.158549543A>T
c.147T>Ac.147T>A
p.Cys49Xp.Cys49X