g.248436227C>Tg.248436227C>T
c.890G>Ac.890G>A
p.Gly297Glup.Gly297Glu
benignbenign
g.248436245T>Cg.248436245T>C
c.872A>Gc.872A>G
p.Lys291Argp.Lys291Arg