Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_004583.4
p.Q80*
c.238C>T
NM_004583.4
p.A31V
c.92C>T
NM_004583.4
p.G93R
c.277G>A
NM_004583.4
p.A143A
c.429C>T
NM_004583.4
p.D201N
c.601G>A
NM_001252039.2
p.G31R
c.91G>C
NM_001252039.2
p.R32_A33ins0
c.95_97dupGGG
NM_001252039.2
p.A35G
c.104C>G
NM_004583.4
p.R9*
c.25C>T
NM_004583.4
p.P10L
c.29C>T
NM_004583.4
p.A31P
c.91G>C
NM_004583.4
p.G33S
c.97G>A