g.45394038_45394058delg.45394038_45394058del
c.2784_2804delc.2784_2804del
p.Asp930_Arg936delp.Asp930_Arg936del
damagingdamaging
g.45394035C>Tg.45394035C>T
c.2807G>Ac.2807G>A
p.Arg936Hisp.Arg936His
probably damagingprobably damaging
g.45391892C>Tg.45391892C>T
c.3383G>Ac.3383G>A
p.Arg1128Hisp.Arg1128His
g.45396334C>Tg.45396334C>T
c.2560+4G>Ac.2560+4G>A
p.?p.?