Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001040431.3
p.Y72C
c.215A>G
NM_001040431.3
p.L67fs
c.199_200fs
NM_001040431.3
p.L67insFs
c.199dupC
NM_001040431.3
p.D11E
c.33T>G
NM_001040431.3
p.D11E
c.33T>A
NM_001040431.3
p.R39W
c.115C>T
NM_001040431.3
p.E42Q
c.124G>C
NM_001040431.3
p.R54G
c.160C>G
NM_001040431.3
p.G65R
c.193G>C
NM_001040431.3
p.G65R
c.193G>A
NM_001040431.3
p.S78*
c.233C>A
NM_001040431.3
p.E91*
c.271G>T