Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_152784.4
p.E596D
c.1788G>C
NM_152784.4
p.E596D
c.1788G>T
NM_152784.4
p.I299V
c.895A>G
NM_152784.4
p.G639R
c.1915G>A
NM_152784.4
p.G639R
c.1915G>C
NM_152784.4
p.V95A
c.284T>C
NM_152784.4
p.G148R
c.442G>A
NM_152784.4
p.G148R
c.442G>C
NM_152784.4
p.Y186H
c.556T>C
NM_152784.4
p.T275T
c.825C>T
NM_152784.4
p.M1V
c.1A>G
NM_152784.4
p.V7delFs
c.21delG