Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_199337.3
p.D209H
c.625G>C
NM_199337.3
p.W5R
c.13T>A
NM_199337.3
p.W5R
c.13T>C
NM_199337.3
p.F14C
c.41T>G
NM_199337.3
p.A15V
c.44C>T
NM_199337.3
p.Q32H
c.96G>C
NM_199337.3
p.Q32H
c.96G>T
NM_199337.3
p.Q32_G33Splc
c.97-120G>A
NM_199337.3
p.E91K
c.271G>A
NM_199337.3
p.E91D
c.273G>C
NM_199337.3
p.E91D
c.273G>T
NM_199337.3
p.R101C
c.301C>T