Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_016263.4
p.D187N
c.559G>A
NM_016263.4
p.A245V
c.734C>T
NM_016263.4
p.S131Y
c.392C>A
NM_016263.4
p.D187G
c.560A>G
NM_016263.4
p.T220K
c.659C>A
NM_016263.4
p.R313W
c.937C>T
NM_016263.4
p.V472I
c.1414G>A
NM_016263.4
p.R477C
c.1429C>T
NM_016263.4
p.M1insFs
c.3dupG
NM_016263.4
p.R11H
c.32G>A
NM_016263.4
p.N19H
c.55A>C
NM_016263.4
p.M27V
c.79A>G