g.228598783A>Gg.228598783A>G
c.620T>Cc.620T>C
p.Leu207Prop.Leu207Pro
probably damagingprobably damaging
g.228602394T>Ag.228602394T>A
c.380A>Tc.380A>T
p.His127Leup.His127Leu