Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_023930.4
p.R157H
c.470G>A
NM_023930.4
p.C5*
c.15C>A
NM_023930.4
p.P10delFs
c.28_29delGG
NM_023930.4
p.P19S
c.55C>T
NM_023930.4
p.P19delFs
c.56delG
NM_023930.4
p.R25insFs
c.73dupC
NM_023930.4
p.T30M
c.89C>T
NM_023930.4
p.T30_M31Splc
c.90+2T>C
NM_023930.4
p.V39I
c.115G>A
NM_023930.4
p.G56V
c.167G>T
NM_023930.4
p.S57L
c.170C>T
NM_023930.4
p.D80H
c.238G>C