Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_003427.5
p.F199L
c.595T>C
NM_003427.5
p.F199L
c.597C>A
NM_003427.5
p.F199L
c.597C>G
NM_003427.5
p.R253C
c.757C>T
NM_003427.5
p.V316I
c.946G>A
NM_003427.5
p.R325H
c.974G>A
NM_003427.5
p.G5R
c.13G>C
NM_003427.5
p.G14E
c.41G>A
NM_003427.5
p.H45L
c.134A>T
NM_003427.5
p.E57D
c.171G>C
NM_003427.5
p.Q63*
c.187C>T
NM_003427.5
p.D126V
c.377A>T