Papers
RefSeq ID
Protein change
DNA change
1–12 of 228 variants
NM_006314.3
p.P284delFs
c.851delC
NM_006314.3
p.R309Splc
c.926+1G>A
NM_006314.3
p.H687N
c.2059C>A
NM_006314.3
p.R52Q
c.155G>A
NM_006314.3
p.T76I
c.227C>T
NM_006314.3
p.R147*
c.439C>T
NM_006314.3
p.V250M
c.748G>A
NM_006314.3
p.P284fs
c.850_851fs
NM_006314.3
p.P284R
c.851C>G
NM_006314.3
p.Q579K
c.1735C>A
NM_006314.3
p.R615H
c.1844G>A
NM_006314.3
p.P34delFs
c.100delC