Papers
RefSeq ID
Protein change
DNA change
1–12 of 292 variants
NM_016642.4
p.Q72*
c.214C>T
NM_016642.4
p.H89P
c.266A>C
NM_016642.4
p.N2937Y
c.8809A>T
NM_016642.4
p.V274I
c.820G>A
NM_016642.4
p.V1968M
c.5902G>A
NM_016642.4
p.R2116Q
c.6347G>A
NM_016642.4
p.E3262K
c.9784G>A
NM_016642.4
p.P3286S
c.9856C>T
NM_016642.4
p.A2_G3insFs
c.6_7insT
NM_016642.4
p.E25K
c.73G>A
NM_016642.4
p.E41K
c.121G>A
NM_016642.4
p.Y311*
c.933C>G