Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_004091.4
p.Q226H
c.678G>T
NM_004091.4
p.Q226H
c.678G>C
NM_004091.4
p.T265I
c.794C>T
NM_004091.4
p.G205R
c.613G>C
NM_004091.4
p.G205R
c.613G>A
NM_004091.4
p.G259S
c.775G>A
NM_004091.4
p.R168C
c.502C>T
NM_004091.4
p.A186T
c.556G>A
NM_004091.4
p.P362H
c.1085C>A
NM_004091.4
p.E376D
c.1128G>T
NM_004091.4
p.E376D
c.1128G>C
NM_004091.4
p.E386K
c.1156G>A