Papers
RefSeq ID
Protein change
DNA change
1–12 of 170 variants
NM_003221.4
p.V201Splc
c.601+5G>A
NM_003221.4
p.V336I
c.1006G>A
NM_003221.4
p.R145_R146delFs
c.435_438del4
NM_003221.4
p.R285Q
c.854G>A
NM_003221.4
p.T306M
c.917C>T
NM_003221.4
p.A413T
c.1237G>A
NM_003221.4
p.Q180_S181Splc
c.541-2A>T
NM_003221.4
p.R236S
c.706C>A
NM_003221.4
p.R236C
c.706C>T
NM_003221.4
p.A297T
c.889G>A
NM_003221.4
p.P332S
c.994C>T
NM_003221.4
p.R382*
c.1144C>T