Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_018053.4
p.L10del1
c.28_29delCTT
NM_018053.4
p.T29I
c.86C>T
NM_018053.4
p.S4delFs
c.10delT
NM_018053.4
p.D12A
c.35A>C
NM_018053.4
p.D26A
c.77A>C
NM_018053.4
p.G28_D30del3
c.82_89del9
NM_018053.4
p.D30A
c.89A>C
NM_018053.4
p.A33T
c.97G>A
NM_018053.4
p.R42H
c.125G>A
NM_018053.4
p.R42P
c.125G>C
NM_018053.4
p.Q105R
c.314A>G
NM_018053.4
p.Q111L
c.332A>T