Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001012970.3
p.R122*
c.364C>T
NM_001012970.3
p.D71H
c.211G>C
NM_001012970.3
p.R82*
c.244C>T
NM_001012970.3
p.T2A
c.4A>G
NM_001012970.3
p.R5Q
c.14G>A
NM_001012970.3
p.R7*
c.19C>T
NM_001012970.3
p.R13C
c.37C>T
NM_001012970.3
p.V15M
c.43G>A
NM_001012970.3
p.S19N
c.56G>A
NM_001012970.3
p.V29F
c.85G>T
NM_001012970.3
p.Q67E
c.199C>G
NM_001012970.3
p.Y78C
c.233A>G