Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_178314.5
p.E394K
c.1180G>A
NM_178314.5
p.E398K
c.1192G>A
NM_178314.5
p.E378*
c.1132G>T
NM_178314.5
p.A11_E16del0
c.31_48del18
NM_178314.5
p.G114insFs
c.340dupG
NM_178314.5
p.Q132Q
c.396G>A
NM_178314.5
p.N143S
c.428A>G
NM_178314.5
p.F149del1
c.445_446delGAA
NM_178314.5
p.E157Q
c.469G>C
NM_178314.5
p.E157K
c.469G>A
NM_178314.5
p.E157A
c.470A>C
NM_178314.5
p.R160*
c.478C>T