Papers
RefSeq ID
Protein change
DNA change
NM_001004343.3
p.P38_V39Splc
c.115-44C>T
NM_001004343.3
p.E42E
c.126G>A
NM_001004343.3
p.Q62Q
c.186G>A
NM_001004343.3
p.R74Splc
c.221+185A>G
NM_001004343.3
p.R76C
c.226C>T
NM_001004343.3
p.R76H
c.227G>A
NM_001004343.3
p.A81G
c.242C>G
NM_001004343.3
p.S96I
c.287G>T
NM_001004343.3
p.A99T
c.295G>A
NM_001004343.3
p.K109K
c.327G>A
NM_001004343.3
p.S121Y
c.362C>A
NM_001004343.3
p.G126A
c.377G>C