Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_020307.4
p.K118T
c.353A>C
NM_020307.4
p.A12_A13delFs
c.34_37del4
NM_020307.4
p.A19A
c.57C>T
NM_020307.4
p.T29T
c.87G>A
NM_020307.4
p.T37fs
c.109_110fs
NM_020307.4
p.T37delFs
c.110delG
NM_020307.4
p.T34_T37del0
c.100_111del12
NM_020307.4
p.I90T
c.269T>C
NM_020307.4
p.A92P
c.274G>C
NM_020307.4
p.Q108H
c.324G>T
NM_020307.4
p.Q108H
c.324G>C
NM_020307.4
p.H112H
c.336T>C