g.48772203G>Cg.48772203G>C
c.6173C>Gc.6173C>G
p.P2058Rp.P2058R
benignbenign
g.48695113C>Tg.48695113C>T
c.11219G>Ac.11219G>A
p.R3740Hp.R3740H
g.48715864T>Cg.48715864T>C
c.9921+3A>Gc.9921+3A>G
p.?p.?
damagingdamaging