Papers
RefSeq ID
Protein change
DNA change
1–12 of 128 variants
NM_033453.4
p.P32T
c.94C>A
NM_033453.4
p.L42Splc
c.124+21A>C
NM_033453.4
p.Q46Q
c.138G>A
NM_033453.4
p.W151*
c.452G>A
NM_033453.4
p.L120_T122insFs
c.359_366dup8
NM_033453.4
p.W151*
c.453G>A
NM_033453.4
p.R178C
c.532C>T
NM_033453.4
p.E187E
c.561G>A
NM_033453.4
p.L42Splc
c.124+68T>C
NM_033453.4
p.L42Splc
c.124+68T>G
NM_033453.4
p.I88Splc
c.264-1G>A
NM_033453.4
p.G123fs
c.367_368fs