Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_152750.5
p.C529Y
c.1586G>A
NM_152750.5
p.V55M
c.163G>A
NM_152750.5
p.Q61H
c.183G>C
NM_152750.5
p.Q61H
c.183G>T
NM_152750.5
p.A798S
c.2392G>T
NM_152750.5
p.A476T
c.1426G>A
NM_152750.5
p.T532S
c.1594A>T
NM_152750.5
p.T532S
c.1595C>G
NM_152750.5
p.R603C
c.1807C>T
NM_152750.5
p.T349delFs
c.1046delC
NM_152750.5
p.V391M
c.1171G>A
NM_152750.5
p.L506F
c.1516C>T