Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
NM_018238.4
p.E141_A142Splc
c.424-3C>G
NM_018238.4
p.R137*
c.409C>T
NM_018238.4
p.E377_G378Splc
c.1131+1G>T
NM_018238.4
p.R281*
c.841C>T
NM_018238.4
p.M1I
c.3G>C
NM_018238.4
p.R138*
c.412C>T
NM_018238.4
p.E141_A142Splc
c.424-1G>A
NM_018238.4
p.K327*
c.979A>T
NM_018238.4
p.E377_G378Splc
c.1131+5G>A
NM_018238.4
p.Y390*
c.1170T>A
NM_018238.4
p.G74Splc
c.221+1G>A
NM_018238.4
p.K99_T100Splc
c.297+2T>C