Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_001136233.3
p.D54D
c.162T>C
NM_001136233.3
p.P123fs
c.367_368fs
NM_001136233.3
p.P123delFs
c.368delG
NM_001136233.3
p.R168H
c.503G>A
NM_001136233.3
p.E197D
c.591G>T
NM_001136233.3
p.E197D
c.591G>C
NM_001136233.3
p.G287E
c.860G>A
NM_001136233.3
p.V318D
c.953T>A
NM_001136233.3
p.S454S
c.1362C>G
NM_001136233.3
p.G472R
c.1414G>C
NM_001136233.3
p.G472R
c.1414G>A
NM_001136233.3
p.K490R
c.1469A>G