Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_014466.3
p.R46C
c.136C>T
NM_014466.3
p.A229V
c.686C>T
NM_014466.3
p.T393T
c.1179A>G
NM_014466.3
p.E136K
c.406G>A
NM_014466.3
p.R372W
c.1114C>T
NM_014466.3
p.L4L
c.12G>A
NM_014466.3
p.P8S
c.22C>T
NM_014466.3
p.V44A
c.131T>C
NM_014466.3
p.E48K
c.142G>A
NM_014466.3
p.Q52E
c.154C>G
NM_014466.3
p.E66*
c.196G>T
NM_014466.3
p.E76G
c.227A>G