Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_001172225.3
p.L5*
c.14T>A
NM_001172225.3
p.T7M
c.20C>T
NM_001172225.3
p.L45V
c.133C>G
NM_001172225.3
p.P52Q
c.155C>A
NM_001172225.3
p.V67L
c.199G>C
NM_001172225.3
p.V67L
c.199G>T
NM_001172225.3
p.K147fs
c.439_440fs
NM_001172225.3
p.R153G
c.457A>G
NM_001172225.3
p.N166S
c.497A>G
NM_001172225.3
p.Q206*
c.616C>T
NM_001172225.3
p.R235T
c.704G>C
NM_001172225.3
p.Q257R
c.770A>G