Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_004310.5
p.Y38*
c.114C>A
NM_004310.5
p.Y38*
c.114C>G
NM_004310.5
p.R23C
c.67C>T
NM_004310.5
p.V8M
c.22G>A
NM_004310.5
p.D12N
c.34G>A
NM_004310.5
p.R69W
c.205C>T
NM_004310.5
p.C82Y
c.245G>A
NM_004310.5
p.A133V
c.398C>T
NM_004310.5
p.V171I
c.511G>A
NM_004310.5
p.M1T
c.2T>C
NM_004310.5
p.M1_L2insFs
c.3_4insA
NM_004310.5
p.K6R
c.17A>G