g.158670216G>Tg.158670216G>T
c.227C>Ac.227C>A
p.Ala76Aspp.Ala76Asp
possibly damagingpossibly damaging
g.158670263A>Tg.158670263A>T
c.180T>Ac.180T>A
p.Tyr60Xp.Tyr60X
damagingdamaging