g.118481173C>Tg.118481173C>T
c.571C>Tc.571C>T
p.Arg191Trpp.Arg191Trp
probably damagingprobably damaging
g.118486168G>Tg.118486168G>T
c.1247G>Tc.1247G>T
p.Ser416Ilep.Ser416Ile
possibly damagingpossibly damaging