Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_001010.3
p.R232H
c.695G>A
NM_001010.3
p.S235A
c.703T>G
NM_001010.3
p.S236A
c.706T>G
NM_001010.3
p.R72P
c.215G>C
NM_001010.3
p.R132H
c.395G>A
NM_001010.3
p.K164R
c.491A>G
NM_001010.3
p.N4D
c.10A>G
NM_001010.3
p.I5insFs
c.13_14insA
NM_001010.3
p.S6del1
c.16_17delGGA
NM_001010.3
p.Q13H
c.39G>C
NM_001010.3
p.L15P
c.44T>C
NM_001010.3
p.I16N
c.47T>A