Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_004345.5
p.G11R
c.31G>A
NM_004345.5
p.S34N
c.101G>A
NM_004345.5
p.G45R
c.133G>C
NM_004345.5
p.L61Q
c.182T>A
NM_004345.5
p.L104Q
c.311T>A
NM_004345.5
p.M1I
c.3G>A
NM_004345.5
p.K2Q
c.4A>C
NM_004345.5
p.T3S
c.8C>G
NM_004345.5
p.T3I
c.8C>T
NM_004345.5
p.Q4H
c.12A>C
NM_004345.5
p.D6D
c.18T>C
NM_004345.5
p.G7D
c.20G>A