Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_181688.3
p.C31_A33del0
c.93_98del6
NM_181688.3
p.A93_V98del6
c.277_293del18
NM_181688.3
p.V234M
c.700G>A
NM_181688.3
p.A93_V98del0
c.279_293del15
NM_181688.3
p.C100C
c.300T>C
NM_181688.3
p.A33_P34delFs
c.98_102del5
NM_181688.3
p.T72P
c.214A>C
NM_181688.3
p.D83A
c.248A>C
NM_181688.3
p.V98_P102del0
c.292_306del15
NM_181688.3
p.P117P
c.351T>C
NM_181688.3
p.Q129P
c.386A>C
NM_181688.3
p.S11fs
c.31_32fs