Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_003136.4
p.T117del1
c.349_350delACA
NM_003136.4
p.T115A
c.343A>G
NM_003136.4
p.G226E
c.677G>A
NM_003136.4
p.L39M
c.115T>A
NM_003136.4
p.G274D
c.821G>A
NM_003136.4
p.C136Y
c.407G>A
NM_003136.4
p.G113R
c.337G>C
NM_003136.4
p.C118Y
c.353G>A
NM_003136.4
p.A223D
c.668C>A
NM_003136.4
p.E54K
c.160G>A
NM_003136.4
p.I212T
c.635T>C
NM_003136.4
p.M1I
c.3G>A