Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_018364.5
p.Q588*
c.1762C>T
NM_018364.5
p.R31R
c.93A>C
NM_018364.5
p.G35R
c.103G>C
NM_018364.5
p.A37fs
c.109_110fs
NM_018364.5
p.A37insFs
c.109dupG
NM_018364.5
p.V56V
c.168G>T
NM_018364.5
p.E71fs
c.211_212fs
NM_018364.5
p.E71delFs
c.212_213delCT
NM_018364.5
p.S81F
c.242C>T
NM_018364.5
p.S118N
c.353G>A
NM_018364.5
p.P127P
c.381A>G
NM_018364.5
p.L141F
c.421C>T