Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_003475.4
p.R156Q
c.467G>A
NM_003475.4
p.C152R
c.454T>C
NM_003475.4
p.G318S
c.952G>A
NM_003475.4
p.R344*
c.1030C>T
NM_003475.4
p.M1V
c.1A>G
NM_003475.4
p.M1delFs
c.2delT
NM_003475.4
p.L5L
c.15G>C
NM_003475.4
p.C30*
c.90C>A
NM_003475.4
p.T44A
c.130A>G
NM_003475.4
p.T44S
c.131C>G
NM_003475.4
p.R58R
c.174G>A
NM_003475.4
p.Q63fs
c.187_188fs