Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
NM_021048.5
p.R3G
c.7C>G
NM_021048.5
p.L16R
c.47T>G
NM_021048.5
p.S62del1
c.184_185delGGA
NM_021048.5
p.Q121H
c.363G>C
NM_021048.5
p.F147L
c.439T>C
NM_021048.5
p.F147L
c.441C>G
NM_021048.5
p.F147L
c.441C>A
NM_021048.5
p.R166K
c.497G>A
NM_021048.5
p.S177I
c.530G>T
NM_021048.5
p.A179S
c.535G>T
NM_021048.5
p.L185_F187del3
c.553_560del9
NM_021048.5
p.E193D
c.579A>T