Papers
RefSeq ID
Protein change
DNA change
1–12 of 88 variants
NM_006571.4
p.A65Splc
c.195-1G>A
NM_006571.4
p.M181delFs
c.542delT
NM_006571.4
p.E3Q
c.7G>C
NM_006571.4
p.G30Splc
c.89-1G>C
NM_006571.4
p.T33K
c.98C>A
NM_006571.4
p.K4K
c.12G>A
NM_006571.4
p.K4N
c.12G>C
NM_006571.4
p.G30Splc
c.88+1G>A
NM_006571.4
p.P81S
c.241C>T
NM_006571.4
p.V92I
c.274G>A
NM_006571.4
p.Y112H
c.334T>C
NM_006571.4
p.L167L
c.499T>C