Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_004227.4
p.K82R
c.245A>G
NM_004227.4
p.D53N
c.157G>A
NM_004227.4
p.Q65H
c.195G>T
NM_004227.4
p.Q65H
c.195G>C
NM_004227.4
p.E345K
c.1033G>A
NM_004227.4
p.R393*
c.1177C>T
NM_004227.4
p.R28C
c.82C>T
NM_004227.4
p.R28H
c.83G>A
NM_004227.4
p.R74K
c.221G>A
NM_004227.4
p.K75N
c.225G>T
NM_004227.4
p.K75N
c.225G>C
NM_004227.4
p.D80Y
c.238G>T