Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_004162.5
p.Q79L
c.236A>T
NM_004162.5
p.N133I
c.398A>T
NM_004162.5
p.S3N
c.8G>A
NM_004162.5
p.R4*
c.10C>T
NM_004162.5
p.G11V
c.32G>T
NM_004162.5
p.L23P
c.68T>C
NM_004162.5
p.L26L
c.78G>C
NM_004162.5
p.A30P
c.88G>C
NM_004162.5
p.S35N
c.104G>A
NM_004162.5
p.R39C
c.115C>T
NM_004162.5
p.G54delFs
c.161delG
NM_004162.5
p.G54fs
c.160_161fs