Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_006011.4
p.E141K
c.421G>A
NM_006011.4
p.P207P
c.621C>G
NM_006011.4
p.L284P
c.851T>C
NM_006011.4
p.*376Q
c.1126T>C
NM_006011.4
p.E107K
c.319G>A
NM_006011.4
p.D128N
c.382G>A
NM_006011.4
p.G172R
c.514G>A
NM_006011.4
p.G172R
c.514G>C
NM_006011.4
p.A303P
c.907G>C
NM_006011.4
p.P345L
c.1034C>T
NM_006011.4
p.M9_L10insFs
c.27_28insA
NM_006011.4
p.M9I
c.27G>T