Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_198563.5
p.R68S
c.204G>T
NM_198563.5
p.R68S
c.204G>C
NM_198563.5
p.W70Splc
c.210-1G>T
NM_198563.5
p.A87V
c.260C>T
NM_198563.5
p.R138C
c.412C>T
NM_198563.5
p.R138H
c.413G>A
NM_198563.5
p.G153E
c.458G>A
NM_198563.5
p.L157P
c.470T>C
NM_198563.5
p.L183L
c.549G>A
NM_198563.5
p.A195S
c.583G>T
NM_198563.5
p.V201I
c.601G>A
NM_198563.5
p.N206_A207Splc
c.619-46G>C