g.212812293G>Ag.212812293G>A
c.283C>Tc.283C>T
p.Arg95Cysp.Arg95Cys
probably damagingprobably damaging
g.212530154A>Gg.212530154A>G
c.1765T>Cc.1765T>C
p.Cys589Argp.Cys589Arg