Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
NM_006417.5
p.W9R
c.25T>A
NM_006417.5
p.W9R
c.25T>C
NM_006417.5
p.D312N
c.934G>A
NM_006417.5
p.A2G
c.5C>G
NM_006417.5
p.G212R
c.634G>C
NM_006417.5
p.R331Q
c.992G>A
NM_006417.5
p.M1T
c.2T>C
NM_006417.5
p.K13N
c.39G>C
NM_006417.5
p.K13N
c.39G>T
NM_006417.5
p.D42insFs
c.124_125insT
NM_006417.5
p.P97insFs
c.291dupA
NM_006417.5
p.R150Q
c.449G>A