Papers
RefSeq ID
Protein change
DNA change
NM_001114600.3
p.A54T
c.160G>A
NM_001114600.3
p.G17_E18Splc
c.52-1184C>T
NM_001114600.3
p.E18V
c.53A>T
NM_001114600.3
p.E18D
c.54A>T
NM_001114600.3
p.I19_D20delFs
c.57_60del4
NM_001114600.3
p.E24K
c.70G>A
NM_001114600.3
p.K25*
c.73A>T
NM_001114600.3
p.S39C
c.116C>G
NM_001114600.3
p.P56L
c.167C>T
NM_001114600.3
p.G70A
c.209G>C
NM_001114600.3
p.T82I
c.245C>T
NM_001114600.3
p.D143H
c.427G>C