Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
NM_000942.5
p.G39R
c.115G>A
NM_000942.5
p.K186_T187delFs
c.556_559del4
NM_000942.5
p.M1T
c.2T>C
NM_000942.5
p.G105R
c.313G>C
NM_000942.5
p.G105R
c.313G>A
NM_000942.5
p.G170D
c.509G>A
NM_000942.5
p.Q151*
c.451C>T
NM_000942.5
p.S5F
c.14C>T
NM_000942.5
p.M9V
c.25A>G
NM_000942.5
p.S21S
c.63C>A
NM_000942.5
p.P40delFs
c.120delG
NM_000942.5
p.G115Splc
c.343+1G>A