Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_017860.5
p.A52V
c.155C>T
NM_017860.5
p.S143_Q144delFs
c.427_430del4
NM_017860.5
p.S152*
c.455C>A
NM_017860.5
p.S152*
c.455C>G
NM_017860.5
p.A20T
c.58G>A
NM_017860.5
p.Q24Q
c.72A>G
NM_017860.5
p.Q28P
c.83A>C
NM_017860.5
p.P30Q
c.89C>A
NM_017860.5
p.M44I
c.132G>A
NM_017860.5
p.M44I
c.132G>C
NM_017860.5
p.M44I
c.132G>T
NM_017860.5
p.Y48delFs
c.143_144delAC