Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_000952.5
p.N114S
c.341A>G
NM_000952.5
p.A224D
c.671C>A
NM_000952.5
p.D289A
c.866A>C
NM_000952.5
p.A230E
c.689C>A
NM_000952.5
p.D63N
c.187G>A
NM_000952.5
p.D63A
c.188A>C
NM_000952.5
p.D289N
c.865G>A
NM_000952.5
p.R42L
c.125G>T
NM_000952.5
p.L197M
c.589C>A
NM_000952.5
p.R228H
c.683G>A
NM_000952.5
p.A274T
c.820G>A
NM_000952.5
p.N285I
c.854A>T