Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_002768.5
p.Q30*
c.88C>T
NM_002768.5
p.K9_F10Splc
c.28-13G>A
NM_002768.5
p.A31V
c.92C>T
NM_002768.5
p.R68C
c.202C>T
NM_002768.5
p.D3Splc
c.8-1G>T
NM_002768.5
p.T11M
c.32C>T
NM_002768.5
p.E50K
c.148G>A
NM_002768.5
p.R54C
c.160C>T
NM_002768.5
p.R64W
c.190C>T
NM_002768.5
p.A66V
c.197C>T
NM_002768.5
p.R68H
c.203G>A
NM_002768.5
p.T81S
c.241A>T