Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_007172.4
p.T123A
c.367A>G
NM_007172.4
p.K3E
c.7A>G
NM_007172.4
p.T95A
c.283A>G
NM_007172.4
p.G114D
c.341G>A
NM_007172.4
p.R168W
c.502C>T
NM_007172.4
p.K188K
c.564A>G
NM_007172.4
p.E9K
c.25G>A
NM_007172.4
p.E23_V24Splc
c.70-1G>C
NM_007172.4
p.G25A
c.74G>C
NM_007172.4
p.R45H
c.134G>A
NM_153645.2
p.E23_S24Splc
c.70-1G>C
NM_007172.4
p.F58delFs
c.174delT