Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_001040402.3
p.M1K
c.2T>A
NM_001040402.3
p.M1R
c.2T>G
NM_001040402.3
p.D4Y
c.10G>T
NM_001040402.3
p.A6V
c.17C>T
NM_001040402.3
p.I38V
c.112A>G
NM_001040402.3
p.D41D
c.123C>T
NM_001040402.3
p.G46R
c.136G>A
NM_001040402.3
p.G46R
c.136G>C
NM_001040402.3
p.S53Y
c.158C>A
NM_001040402.3
p.N138_V139Splc
c.414+8A>T
NM_001040402.3
p.Y182D
c.544T>G
NM_001040402.3
p.F186L
c.556T>C