Papers
RefSeq ID
Protein change
DNA change
1–12 of 224 variants
NM_017565.4
p.R136*
c.406C>T
NM_017565.4
p.L12delFs
c.34_35delAG
NM_017565.4
p.F305_F306delFs
c.915_918del4
NM_017565.4
p.G331D
c.992G>A
NM_017565.4
p.L12fs
c.34_35fs
NM_017565.4
p.R276*
c.826C>T
NM_017565.4
p.R478*
c.1432C>T
NM_017565.4
p.L173R
c.518T>G
NM_017565.4
p.D197Splc
c.590-2A>G
NM_017565.4
p.D403N
c.1207G>A
NM_017565.4
p.L117fs
c.349_350fs
NM_017565.4
p.R243*
c.727C>T