Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_001001410.3
p.E244K
c.730G>A
NM_001001410.3
p.E26D
c.78G>T
NM_001001410.3
p.E26D
c.78G>C
NM_001001410.3
p.E64*
c.190G>T
NM_001001410.3
p.G82A
c.245G>C
NM_001001410.3
p.D110Y
c.328G>T
NM_001001410.3
p.E131*
c.391G>T
NM_001001410.3
p.G139W
c.415G>T
NM_001001410.3
p.H141Q
c.423C>G
NM_001001410.3
p.H141Q
c.423C>A
NM_001001410.3
p.Y156H
c.466T>C
NM_001001410.3
p.E166K
c.496G>A