Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_006335.3
p.V113I
c.337G>A
NM_006335.3
p.M1V
c.1A>G
NM_006335.3
p.M1T
c.2T>C
NM_006335.3
p.R6P
c.17G>C
NM_006335.3
p.C9Splc
c.26+1G>T
NM_006335.3
p.C9Splc
c.27-6T>G
NM_006335.3
p.R12Q
c.35G>A
NM_006335.3
p.I13T
c.38T>C
NM_006335.3
p.V14M
c.40G>A
NM_006335.3
p.G27C
c.79G>T
NM_006335.3
p.R49*
c.145C>T
NM_006335.3
p.R49Q
c.146G>A