Papers
RefSeq ID
Protein change
DNA change
1–12 of 115 variants
NM_004769.4
p.R79*
c.235C>T
NM_004769.4
p.R98H
c.293G>A
NM_004769.4
p.R152H
c.455G>A
NM_004769.4
p.E230A
c.689A>C
NM_004769.4
p.I249F
c.745A>T
NM_004769.4
p.P289S
c.865C>T
NM_004769.4
p.S301_S303del0
c.903_908del6
NM_004769.4
p.R465Q
c.1394G>A
NM_004769.4
p.R11Q
c.32G>A
NM_004769.4
p.A14T
c.40G>A
NM_004769.4
p.R18C
c.52C>T
NM_004769.4
p.V19M
c.55G>A