Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_182522.5
p.R140W
c.418C>T
NM_182522.5
p.M6insFs
c.17dupT
NM_182522.5
p.M6delFs
c.17delA
NM_182522.5
p.S16W
c.47C>G
NM_182522.5
p.C28C
c.84C>T
NM_182522.5
p.G44Splc
c.130+61529G>A
NM_182522.5
p.G44Splc
c.131-1G>A
NM_182522.5
p.V58M
c.172G>A
NM_182522.5
p.R60T
c.179G>C
NM_182522.5
p.E69K
c.205G>A
NM_182522.5
p.R70W
c.208C>T
NM_182522.5
p.F79F
c.237C>T