Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
NM_018242.3
p.G64D
c.191G>A
NM_018242.3
p.L125F
c.373C>T
NM_018242.3
p.A465V
c.1394C>T
NM_018242.3
p.V338I
c.1012G>A
NM_018242.3
p.E273Q
c.817G>C
NM_018242.3
p.C497F
c.1490G>T
NM_018242.3
p.T159M
c.476C>T
NM_018242.3
p.V279D
c.836T>A
NM_018242.3
p.M307_V308Splc
c.922-158G>A
NM_018242.3
p.D328A
c.983A>C
NM_018242.3
p.V480M
c.1438G>A
NM_018242.3
p.R11H
c.32G>A