Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_138806.4
p.E335Q
c.1003G>C
NM_138806.4
p.T144P
c.430A>C
NM_138806.4
p.F19_L20del1
c.57_59delAAG
NM_138806.4
p.E54K
c.160G>A
NM_138806.4
p.I57_Q59del3
c.169_176del9
NM_138806.4
p.T115I
c.344C>T
NM_138806.4
p.T121P
c.361A>C
NM_138806.4
p.H200Q
c.600T>G
NM_138806.4
p.H200Q
c.600T>A
NM_138806.4
p.V281M
c.841G>A
NM_138806.4
p.T7delFs
c.19_20delGT
NM_138806.4
p.L16M
c.46T>A