Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_053049.4
p.R91G
c.271A>G
NM_053049.4
p.L2L
c.4C>T
NM_053049.4
p.H6delFs
c.18delC
NM_053049.4
p.D50G
c.149A>G
NM_053049.4
p.E77K
c.229G>A
NM_053049.4
p.R91K
c.272G>A
NM_053049.4
p.K113R
c.338A>G
NM_053049.4
p.P115S
c.343C>T
NM_053049.4
p.K119N
c.357G>C
NM_053049.4
p.K119N
c.357G>T
NM_053049.4
p.D125N
c.373G>A
NM_053049.4
p.A138fs
c.412_413fs