Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_014346.5
p.T40I
c.119C>T
NM_014346.5
p.S14_N15delFs
c.42_43delCA
NM_014346.5
p.K17T
c.50A>C
NM_014346.5
p.S21Splc
c.62+5334G>A
NM_014346.5
p.Y26H
c.76T>C
NM_014346.5
p.H30fs
c.88_89fs
NM_014346.5
p.H30insFs
c.90dupC
NM_014346.5
p.L36P
c.107T>C
NM_014346.5
p.L42_R43del2
c.124_128del6
NM_014346.5
p.T68_S69insFs
c.204_205ins14
NM_014346.5
p.Q115E
c.343C>G
NM_014346.5
p.E127V
c.380A>T