g.220338086T>Cg.220338086T>C
c.3143A>Gc.3143A>G
p.His1048Argp.His1048Arg
possibly damagingpossibly damaging
g.220330767C>Gg.220330767C>G
c.3400G>Cc.3400G>C
p.Val1134Leup.Val1134Leu
benignbenign
g.220383822G>Cg.220383822G>C
c.520C>Gc.520C>G
p.Leu174Valp.Leu174Val
probably damagingprobably damaging
g.220445634C>Tg.220445634C>T
c.46G>Ac.46G>A
p.Ala16Thrp.Ala16Thr