Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001145020.3
p.A13D
c.38C>A
NM_001145020.3
p.G44S
c.130G>A
NM_001145020.3
p.A75V
c.224C>T
NM_001145020.3
p.Q15R
c.44A>G
NM_001145020.3
p.Y19C
c.56A>G
NM_001145020.3
p.C20F
c.59G>T
NM_001145020.3
p.S24Splc
c.71+97A>T
NM_001145020.3
p.E34G
c.101A>G
NM_001145020.3
p.Y41Y
c.123C>T
NM_001145020.3
p.H76Q
c.228T>G
NM_001145020.3
p.H76Q
c.228T>A
NM_001145020.3
p.K90_E91Splc
c.270+1G>A