Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_006793.5
p.D202N
c.604G>A
NM_006793.5
p.A142G
c.425C>G
NM_006793.5
p.G173C
c.517G>T
NM_006793.5
p.D163E
c.489C>G
NM_006793.5
p.S12fs
c.34_35fs
NM_006793.5
p.D163E
c.489C>A
NM_006793.5
p.R170*
c.508C>T
NM_006793.5
p.R15*
c.43C>T
NM_006793.5
p.A114insFs
c.340dupG
NM_006793.5
p.S12_V13Splc
c.37-2A>G
NM_006793.5
p.K166*
c.496A>T
NM_006793.5
p.D190H
c.568G>C