Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_144499.3
p.G38D
c.113G>A
NM_144499.3
p.Q200E
c.598C>G
NM_144499.3
p.D129G
c.386A>G
NM_144499.3
p.Q302*
c.904C>T
NM_144499.3
p.S120*
c.359C>A
NM_144499.3
p.C321*
c.963C>A
NM_144499.3
p.I52N
c.155T>A
NM_144499.3
p.I218T
c.653T>C
NM_144499.3
p.R138H
c.413G>A
NM_144499.3
p.Q200L
c.599A>T
NM_144499.3
p.T73M
c.218C>T
NM_144499.3
p.E167K
c.499G>A