g.52256312G>Tg.52256312G>T
c.3265C>Ac.3265C>A
p.Leu1089Ilep.Leu1089Ile
probably damagingprobably damaging
g.52303211T>Cg.52303211T>C
c.712A>Gc.712A>G
p.Thr238Alap.Thr238Ala
benignbenign
g.52305894G>Tg.52305894G>T
c.630+4C>Ac.630+4C>A
p.?p.?
damagingdamaging