Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_001351288.2
p.R149H
c.446G>A
NM_001351288.2
p.E134K
c.400G>A
NM_001351288.2
p.D404N
c.1210G>A
NM_001351288.2
p.D143N
c.427G>A
NM_001351288.2
p.E245Q
c.733G>C
NM_001351288.2
p.S358N
c.1073G>A
NM_001351288.2
p.E399K
c.1195G>A
NM_001351288.2
p.G438E
c.1313G>A
NM_001351288.2
p.I449V
c.1345A>G
NM_001351288.2
p.D452H
c.1354G>C
NM_001351288.2
p.M1K
c.2T>A
NM_001351288.2
p.F2L
c.4T>C