Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_005340.7
p.R37P
c.110G>C
NM_005340.7
p.H112N
c.334C>A
NM_005340.7
p.C84R
c.250T>C
NM_005340.7
p.G93D
c.278G>A
NM_005340.7
p.C38R
c.112T>C
NM_005340.7
p.G89V
c.266G>T
NM_005340.7
p.W123*
c.368G>A
NM_005340.7
p.W123*
c.369G>A
NM_005340.7
p.Q62*
c.184C>T
NM_005340.7
p.H51fs
c.151_152fs
NM_005340.7
p.H51R
c.152A>G
NM_005340.7
p.V97M
c.289G>A