Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_178539.5
p.K3E
c.7A>G
NM_178539.5
p.Q7Q
c.21G>A
NM_178539.5
p.G12*
c.34G>T
NM_178539.5
p.L14Q
c.41T>A
NM_178539.5
p.A36Splc
c.106+28786A>G
NM_178539.5
p.A36Splc
c.106+38982A>T
NM_178539.5
p.A36Splc
c.107-44201G>A
NM_178539.5
p.T41A
c.121A>G
NM_178539.5
p.P71S
c.211C>T
NM_178539.5
p.A80V
c.239C>T
NM_178539.5
p.A81G
c.242C>G
NM_178539.5
p.V90L
c.268G>T