Papers
RefSeq ID
Protein change
DNA change
1–12 of 44 variants
NM_033386.4
p.P442S
c.1324C>T
NM_033386.4
p.S506L
c.1517C>T
NM_033386.4
p.V511M
c.1531G>A
NM_033386.4
p.R852C
c.2554C>T
NM_033386.4
p.E17*
c.49G>T
NM_033386.4
p.E23_I24delFs
c.68_71del4
NM_033386.4
p.F37del1
c.109_111delTTC
NM_033386.4
p.R43W
c.127C>T
NM_033386.4
p.L65_A66Splc
c.195+1G>A
NM_033386.4
p.E68_E71del4
c.202_212del12
NM_033386.4
p.A78T
c.232G>A
NM_033386.4
p.S109_G111del3
c.325_332del9