Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_175066.4
p.Q295R
c.884A>G
NM_175066.4
p.S116N
c.347G>A
NM_175066.4
p.S260N
c.779G>A
NM_175066.4
p.A322V
c.965C>T
NM_175066.4
p.R49Q
c.146G>A
NM_175066.4
p.Q295*
c.883C>T
NM_175066.4
p.A392T
c.1174G>A
NM_175066.4
p.G600R
c.1798G>C
NM_175066.4
p.G600R
c.1798G>A
NM_175066.4
p.H28fs
c.82_83fs
NM_175066.4
p.R30T
c.89G>C
NM_175066.4
p.E36Q
c.106G>C