Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_018471.3
p.F195V
c.583T>G
NM_018471.3
p.P3insFs
c.7_8ins5
NM_018471.3
p.E25_D26Splc
c.75+3531A>G
NM_018471.3
p.Q49*
c.145C>T
NM_018471.3
p.E77Q
c.229G>C
NM_018471.3
p.A91V
c.272C>T
NM_018471.3
p.I94V
c.280A>G
NM_018471.3
p.G97Splc
c.289+40G>A
NM_018471.3
p.D117Y
c.349G>T
NM_018471.3
p.H123N
c.367C>A
NM_018471.3
p.R141K
c.422G>A
NM_018471.3
p.N152N
c.456T>C