Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_001700.5
p.P74P
c.222C>T
NM_001700.5
p.R158H
c.473G>A
NM_001700.5
p.F169F
c.507T>C
NM_001700.5
p.P176R
c.527C>G
NM_001700.5
p.V232fs
c.694_695fs
NM_001700.5
p.L4R
c.11T>G
NM_001700.5
p.G12D
c.35G>A
NM_001700.5
p.A15E
c.44C>A
NM_001700.5
p.G30S
c.88G>A
NM_001700.5
p.R31Q
c.92G>A
NM_001700.5
p.C52S
c.154T>A
NM_001700.5
p.C52S
c.155G>C