Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_032317.3
p.Y51C
c.152A>G
NM_032317.3
p.L101Q
c.302T>A
NM_032317.3
p.P78S
c.232C>T
NM_032317.3
p.G34R
c.100G>C
NM_032317.3
p.G34R
c.100G>A
NM_032317.3
p.S44delFs
c.130_131delGA
NM_032317.3
p.H77del1
c.229_230delGTG
NM_032317.3
p.E204*
c.610G>T
NM_032317.3
p.T130_P131del2
c.388_392del6
NM_032317.3
p.W8*
c.23G>A
NM_032317.3
p.W8*
c.24G>A
NM_032317.3
p.S44fs
c.130_131fs