Papers
RefSeq ID
Protein change
DNA change
1–12 of 204 variants
NM_006642.5
p.R247Splc
c.740+356C>T
NM_006642.5
p.Y232*
c.696T>A
NM_006642.5
p.Y232*
c.696T>G
NM_006642.5
p.E378D
c.1134A>C
NM_006642.5
p.E378D
c.1134A>T
NM_006642.5
p.K227*
c.679A>T
NM_006642.5
p.L282_C283delFs
c.845_848del4
NM_006642.5
p.R374*
c.1120C>T
NM_006642.5
p.E474delFs
c.1420delG
NM_006642.5
p.T482delFs
c.1444delA
NM_006642.5
p.D543_S544delFs
c.1627_1630del4
NM_006642.5
p.P93L
c.278C>T