Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_016256.4
p.H84Q
c.252C>G
NM_016256.4
p.R328C
c.982C>T
NM_016256.4
p.H84Q
c.252C>A
NM_016256.4
p.S4_R7ins1
c.11_19dup9
NM_016256.4
p.D286A
c.857A>C
NM_016256.4
p.G440A
c.1319G>C
NM_016256.4
p.T465I
c.1394C>T
NM_016256.4
p.A2V
c.5C>T
NM_016256.4
p.A30V
c.89C>T
NM_016256.4
p.R42H
c.125G>A
NM_016256.4
p.R44P
c.131G>C
NM_016256.4
p.P41_R44delFs
c.123_130del8