Papers
RefSeq ID
Protein change
DNA change
1–12 of 48 variants
NM_017728.4
p.G185S
c.553G>A
NM_017728.4
p.A2E
c.5C>A
NM_017728.4
p.G3G
c.9T>G
NM_017728.4
p.T32S
c.94A>T
NM_017728.4
p.A40T
c.118G>A
NM_017728.4
p.G41R
c.121G>A
NM_017728.4
p.G41R
c.121G>C
NM_017728.4
p.V58M
c.172G>A
NM_017728.4
p.T59delFs
c.175delA
NM_017728.4
p.T59fs
c.175_176fs
NM_017728.4
p.S96T
c.287G>C
NM_017728.4
p.R101fs
c.301_302fs