Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001146684.3
p.R185H
c.554G>A
NM_001146684.3
p.S10L
c.29C>T
NM_001146684.3
p.D23Y
c.67G>T
NM_001146684.3
p.D23N
c.67G>A
NM_001146684.3
p.T30M
c.89C>T
NM_001146684.3
p.Q54H
c.162G>T
NM_001146684.3
p.Q54H
c.162G>C
NM_001146684.3
p.S113fs
c.337_338fs
NM_001146684.3
p.P114S
c.340C>T
NM_001146684.3
p.E146Q
c.436G>C
NM_001146684.3
p.Q148Q
c.444G>A
NM_001146684.3
p.L166L
c.496C>T