Papers
RefSeq ID
Protein change
DNA change
1–12 of 216 variants
NM_018397.5
p.E40A
c.119A>C
NM_018397.5
p.L78R
c.233T>G
NM_018397.5
p.N441S
c.1322A>G
NM_018397.5
p.R191P
c.572G>C
NM_018397.5
p.R152H
c.455G>A
NM_018397.5
p.D507N
c.1519G>A
NM_018397.5
p.L25L
c.75G>A
NM_018397.5
p.R58S
c.174G>C
NM_018397.5
p.R237W
c.709C>T
NM_018397.5
p.A379V
c.1136C>T
NM_018397.5
p.P394T
c.1180C>A
NM_018397.5
p.M1insFs
c.1dupA