Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_001042552.3
p.L8F
c.24G>C
NM_001042552.3
p.L8F
c.24G>T
NM_001042552.3
p.V72I
c.214G>A
NM_001042552.3
p.K86_D87Splc
c.258+1G>A
NM_001042552.3
p.E125Q
c.373G>C
NM_001042552.3
p.R127T
c.380G>C
NM_001042552.3
p.H147D
c.439C>G
NM_001042552.3
p.R149C
c.445C>T
NM_001042552.3
p.Q160H
c.480A>C
NM_001042552.3
p.L168V
c.502C>G
NM_001042552.3
p.L169M
c.505C>A
NM_001042552.3
p.H170Y
c.508C>T