Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_018266.3
p.N176S
c.527A>G
NM_018266.3
p.A487T
c.1459G>A
NM_018266.3
p.S247L
c.740C>T
NM_018266.3
p.S442L
c.1325C>T
NM_018266.3
p.L45P
c.134T>C
NM_018266.3
p.R60H
c.179G>A
NM_018266.3
p.L87F
c.259C>T
NM_018266.3
p.A130V
c.389C>T
NM_018266.3
p.R159H
c.476G>A
NM_018266.3
p.V161A
c.482T>C
NM_018266.3
p.V218M
c.652G>A
NM_018266.3
p.S227fs
c.679_680fs