Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001318252.2
p.A155fs
c.463_464fs
NM_001318252.2
p.A155delFs
c.463delC
NM_001318252.2
p.K71E
c.211A>G
NM_001318252.2
p.M1I
c.3G>A
NM_001318252.2
p.A2T
c.4G>A
NM_001318252.2
p.A34V
c.101C>T
NM_001318252.2
p.G39E
c.116G>A
NM_001318252.2
p.K43_G44Splc
c.130-22856G>A
NM_001318252.2
p.G51R
c.151G>C
NM_001318252.2
p.G51R
c.151G>A
NM_001318252.2
p.A54S
c.160G>T
NM_001318252.2
p.E62*
c.184G>T