Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_145269.5
p.R160*
c.478C>T
NM_145269.5
p.R39insFs
c.117dupG
NM_145269.5
p.A57V
c.170C>T
NM_145269.5
p.Y58C
c.173A>G
NM_145269.5
p.K79*
c.235A>T
NM_145269.5
p.E87_V88Splc
c.261+105A>C
NM_145269.5
p.R136Q
c.407G>A
NM_145269.5
p.N137I
c.410A>T
NM_145269.5
p.Q146_A147Splc
c.439-7T>A
NM_145269.5
p.A158P
c.472G>C
NM_145269.5
p.V220I
c.658G>A
NM_145269.5
p.E272D
c.816A>C