Papers
RefSeq ID
Protein change
DNA change
1–12 of 396 variants
NM_000151.4
p.R83C
c.247C>T
NM_000151.4
p.Q347*
c.1039C>T
NM_000151.4
p.R83H
c.248G>A
NM_000151.4
p.L216L
c.648G>T
NM_000151.4
p.G188R
c.562G>C
NM_000151.4
p.G270V
c.809G>T
NM_000151.4
p.D38V
c.113A>T
NM_000151.4
p.R170*
c.508C>T
NM_000151.4
p.R170Q
c.509G>A
NM_000151.4
p.V166G
c.497T>G
NM_000151.4
p.G222R
c.664G>A
NM_000151.4
p.G222R
c.664G>C