Papers
RefSeq ID
Protein change
DNA change
1–12 of 222 variants
NM_001095.4
p.E79Q
c.235G>C
NM_001095.4
p.E238Q
c.712G>C
NM_001095.4
p.E79A
c.236A>C
NM_001095.4
p.D237N
c.709G>A
NM_001095.4
p.E79K
c.235G>A
NM_001095.4
p.E219Q
c.655G>C
NM_001095.4
p.E238A
c.713A>C
NM_001095.4
p.F352L
c.1054T>C
NM_001095.4
p.F352L
c.1056C>A
NM_001095.4
p.F352L
c.1056C>G
NM_001095.4
p.G433C
c.1297G>T
NM_001095.4
p.T26S
c.76A>T