Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_012183.3
p.V96L
c.286G>C
NM_012183.3
p.V96L
c.286G>T
NM_012183.3
p.A268G
c.803C>G
NM_012183.3
p.N173H
c.517A>C
NM_012183.3
p.R54H
c.161G>A
NM_012183.3
p.A127V
c.380C>T
NM_012183.3
p.T151A
c.451A>G
NM_012183.3
p.T16M
c.47C>T
NM_012183.3
p.A88_G91del0
c.262_273del12
NM_012183.3
p.P120L
c.359C>T
NM_012183.3
p.G125S
c.373G>A
NM_012183.3
p.G125R
c.373G>C