Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_153827.5
p.K54R
c.161A>G
NM_153827.5
p.D115Y
c.343G>T
NM_153827.5
p.C269R
c.805T>C
NM_153827.5
p.R299C
c.895C>T
NM_153827.5
p.R381*
c.1141C>T
NM_153827.5
p.R659H
c.1976G>A
NM_153827.5
p.Q380del1
c.1138_1139delCAG
NM_153827.5
p.E576D
c.1728G>C
NM_153827.5
p.E576D
c.1728G>T
NM_153827.5
p.V771A
c.2312T>C
NM_153827.5
p.P775L
c.2324C>T
NM_153827.5
p.Y36C
c.107A>G