Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_018477.3
p.R213H
c.638G>A
NM_018477.3
p.K26R
c.77A>G
NM_018477.3
p.P2L
c.5C>T
NM_018477.3
p.E5Q
c.13G>C
NM_018477.3
p.I38V
c.112A>G
NM_018477.3
p.K50_P51Splc
c.151-1843G>T
NM_018477.3
p.P51S
c.151C>T
NM_018477.3
p.V52I
c.154G>A
NM_018477.3
p.R87H
c.260G>A
NM_018477.3
p.R107C
c.319C>T
NM_018477.3
p.L109F
c.325C>T
NM_018477.3
p.A121A
c.363T>A