Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_001167856.3
p.S729N
c.2186G>A
NM_001167856.3
p.S728N
c.2183G>A
NM_001167856.3
p.N1139fs
c.3415_3416fs
NM_001167856.3
p.T1339M
c.4016C>T
NM_001167856.3
p.M1insFs
c.3dupG
NM_001167856.3
p.D7N
c.19G>A
NM_001167856.3
p.L8F
c.24A>T
NM_001167856.3
p.L8F
c.24A>C
NM_001167856.3
p.S16insFs
c.46_47insT
NM_001167856.3
p.P47S
c.139C>T
NM_001167856.3
p.E56Q
c.166G>C
NM_001167856.3
p.E58K
c.172G>A