Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_014825.3
p.R1931K
c.5792G>A
NM_014825.3
p.R1931K
c.5792G>A
NM_014825.3
p.P1487L
c.4460C>T
NM_014825.3
p.D63E
c.189T>G
NM_014825.3
p.D63E
c.189T>A
NM_014825.3
p.R90*
c.268C>T
NM_014825.3
p.S457T
c.1369T>A
NM_014825.3
p.A836T
c.2506G>A
NM_014825.3
p.R1226H
c.3677G>A
NM_014825.3
p.D1267N
c.3799G>A
NM_014825.3
p.V1360M
c.4078G>A
NM_014825.3
p.G1809D
c.5426G>A