Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_018317.4
p.R396H
c.1187G>A
NM_018317.4
p.M1_L2insFs
c.3_4insT
NM_018317.4
p.L36F
c.106C>T
NM_018317.4
p.A66V
c.197C>T
NM_018317.4
p.P84S
c.250C>T
NM_018317.4
p.V92V
c.276A>G
NM_018317.4
p.W101*
c.302G>A
NM_018317.4
p.K130N
c.390A>C
NM_018317.4
p.K130N
c.390A>T
NM_018317.4
p.E138G
c.413A>G
NM_018317.4
p.R166H
c.497G>A
NM_018317.4
p.L184fs
c.550_551fs