Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_018168.4
p.K131_Q132Splc
c.394-2A>G
NM_018168.4
p.Q183*
c.547C>T
NM_018168.4
p.A16P
c.46G>C
NM_018168.4
p.P26P
c.78C>A
NM_018168.4
p.S27L
c.80C>T
NM_018168.4
p.Q37H
c.111G>T
NM_018168.4
p.Q37H
c.111G>C
NM_018168.4
p.Y69F
c.206A>T
NM_018168.4
p.S73F
c.218C>T
NM_018168.4
p.R111*
c.331C>T
NM_018168.4
p.G116_L118del0
c.346_354del9
NM_018168.4
p.R122Q
c.365G>A