Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_001105669.4
p.E231G
c.692A>G
NM_001105669.4
p.V395G
c.1184T>G
NM_001105669.4
p.R31Q
c.92G>A
NM_001105669.4
p.R115*
c.343C>T
NM_001105669.4
p.N240N
c.720C>T
NM_001105669.4
p.Q382fs
c.1144_1145fs
NM_001105669.4
p.P532A
c.1594C>G
NM_001105669.4
p.S564delFs
c.1690delA
NM_001105669.4
p.P6L
c.17C>T
NM_001105669.4
p.E14E
c.42A>G
NM_001105669.4
p.K22N
c.66G>C
NM_001105669.4
p.K22N
c.66G>T