Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_001131.3
p.R168*
c.502C>T
NM_001131.3
p.E43Q
c.127G>C
NM_001131.3
p.M21I
c.63G>T
NM_001131.3
p.M21I
c.63G>C
NM_001131.3
p.M21I
c.63G>A
NM_001131.3
p.R52R
c.156G>A
NM_001131.3
p.A71T
c.211G>A
NM_001131.3
p.S160A
c.478T>G
NM_001131.3
p.D215A
c.644A>C
NM_001131.3
p.E247A
c.740A>C
NM_001131.3
p.M1insFs
c.1dupA
NM_001131.3
p.M1R
c.2T>G