g.104076367A>Gg.104076367A>G
c.247A>Gc.247A>G
p.Thr83Alap.Thr83Ala
benignbenign
g.104068839C>Ag.104068839C>A
c.147C>Ac.147C>A
p.Tyr49Xp.Tyr49X
damagingdamaging