Papers
RefSeq ID
Protein change
DNA change
1–12 of 90 variants
NM_019044.5
p.P228L
c.683C>T
NM_019044.5
p.R179C
c.535C>T
NM_019044.5
p.G11D
c.32G>A
NM_019044.5
p.M57I
c.171G>C
NM_019044.5
p.L73F
c.217C>T
NM_019044.5
p.L73I
c.217C>A
NM_019044.5
p.Q102*
c.304C>T
NM_019044.5
p.Q121*
c.361C>T
NM_019044.5
p.E132K
c.394G>A
NM_019044.5
p.R161K
c.482G>A
NM_019044.5
p.D171Y
c.511G>T
NM_019044.5
p.V175M
c.523G>A