Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
NM_004312.3
p.R100*
c.298C>T
NM_004312.3
p.L80P
c.239T>C
NM_004312.3
p.A298D
c.893C>A
NM_004312.3
p.R72*
c.214C>T
NM_004312.3
p.T256Splc
c.767+1G>A
NM_004312.3
p.G283delFs
c.848delG
NM_004312.3
p.D34H
c.100G>C
NM_004312.3
p.G283fs
c.847_848fs
NM_004312.3
p.E310*
c.928G>T
NM_004312.3
p.G330Splc
c.989+1G>A
NM_004312.3
p.G35S
c.103G>A
NM_004312.3
p.G129_P130delFs
c.386_389del4