Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_006396.3
p.C53S
c.157T>A
NM_006396.3
p.R27*
c.79C>T
NM_006396.3
p.L109R
c.326T>G
NM_006396.3
p.A86Splc
c.257-1G>A
NM_006396.3
p.L24L
c.70C>T
NM_006396.3
p.G57_T58Splc
c.172-1G>C
NM_006396.3
p.G57_T58Splc
c.171+1G>A
NM_006396.3
p.A92T
c.274G>A
NM_006396.3
p.A114S
c.340G>T
NM_006396.3
p.T153I
c.458C>T
NM_006396.3
p.T162A
c.484A>G
NM_006396.3
p.A2T
c.4G>A