Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_006468.8
p.C79S
c.235T>A
NM_006468.8
p.C79S
c.236G>C
NM_006468.8
p.R84Q
c.251G>A
NM_006468.8
p.L11F
c.33G>C
NM_006468.8
p.L11F
c.33G>T
NM_006468.8
p.R438G
c.1312A>G
NM_006468.8
p.L28M
c.82C>A
NM_006468.8
p.R533*
c.1597A>T
NM_006468.8
p.R504H
c.1511G>A
NM_006468.8
p.A511delFs
c.1533delC
NM_006468.8
p.M1V
c.1A>G
NM_006468.8
p.M1I
c.3G>T