g.204199666T>Ag.204199666T>A
c.2458A>Tc.2458A>T
p.Ser820Cysp.Ser820Cys
probably damagingprobably damaging
g.204237336C>Ag.204237336C>A
c.207G>Tc.207G>T
p.Gln69His (Splice)p.Gln69His (Splice)
possibly damagingpossibly damaging
g.204198145C>Ag.204198145C>A
c.2671G>Tc.2671G>T
p.Glu891Xp.Glu891X
damagingdamaging