Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_006370.3
p.R82Q
c.245G>A
NM_006370.3
p.A89T
c.265G>A
NM_006370.3
p.R176H
c.527G>A
NM_006370.3
p.S4Y
c.11C>A
NM_006370.3
p.E39Splc
c.115+3735A>G
NM_006370.3
p.E39Splc
c.116-33A>G
NM_006370.3
p.R67H
c.200G>A
NM_006370.3
p.P76T
c.226C>A
NM_006370.3
p.Y115F
c.344A>T
NM_006370.3
p.M122V
c.364A>G
NM_006370.3
p.R124Q
c.371G>A
NM_006370.3
p.R151Q
c.452G>A