g.190068070C>Tg.190068070C>T
c.1379G>Ac.1379G>A
p.Cys460Tyrp.Cys460Tyr
probably damagingprobably damaging
g.190195412C>Tg.190195412C>T
c.761G>Ac.761G>A
p.Arg254Hisp.Arg254His
benignbenign
g.190250686G>Ag.190250686G>A
c.427+4C>Tc.427+4C>T
p.?p.?
damagingdamaging