Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001080504.3
p.D51H
c.151G>C
NM_001080504.3
p.D51D
c.153T>C
NM_001080504.3
p.D53H
c.157G>C
NM_001080504.3
p.D53Y
c.157G>T
NM_001080504.3
p.T58I
c.173C>T
NM_001080504.3
p.Q61R
c.182A>G
NM_001080504.3
p.P128S
c.382C>T
NM_001080504.3
p.P128L
c.383C>T
NM_001080504.3
p.V232V
c.696A>C
NM_001080504.3
p.S315A
c.943T>G
NM_001080504.3
p.S333_Q334insFs
c.999_1000ins29
NM_001080504.3
p.S429F
c.1286C>T