Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_014509.5
p.Q276R
c.827A>G
NM_014509.5
p.M1insFs
c.2dupT
NM_014509.5
p.E3K
c.7G>A
NM_014509.5
p.Y82delFs
c.244delT
NM_014509.5
p.P166L
c.497C>T
NM_014509.5
p.C190G
c.568T>G
NM_014509.5
p.T200S
c.598A>T
NM_014509.5
p.Q212*
c.634C>T
NM_014509.5
p.S220G
c.658A>G
NM_014509.5
p.E227K
c.679G>A
NM_014509.5
p.A230V
c.689C>T
NM_014509.5
p.S232P
c.694T>C