Papers
RefSeq ID
Protein change
DNA change
NM_145233.4
p.V107M
c.319G>A
NM_145233.4
p.M1_D2Splc
c.3+140C>T
NM_145233.4
p.D49Y
c.145G>T
NM_145233.4
p.R98*
c.292C>T
NM_145233.4
p.R151Q
c.452G>A
NM_145233.4
p.R175C
c.523C>T
NM_145233.4
p.R175H
c.524G>A
NM_145233.4
p.G281W
c.841G>T
NM_145233.4
p.H293D
c.877C>G
NM_145233.4
p.Q307P
c.920A>C
NM_145233.4
p.G327E
c.980G>A
NM_145233.4
p.S344L
c.1031C>T