Papers
RefSeq ID
Protein change
DNA change
1–12 of 56 variants
NM_001190946.3
p.S523F
c.1568C>T
NM_001190946.3
p.R90H
c.269G>A
NM_001190946.3
p.T299A
c.895A>G
NM_001190946.3
p.S404F
c.1211C>T
NM_001190946.3
p.P556A
c.1666C>G
NM_001190946.3
p.P575L
c.1724C>T
NM_001190946.3
p.S736P
c.2206T>C
NM_001190946.3
p.A39P
c.115G>C
NM_001190946.3
p.G68D
c.203G>A
NM_001190946.3
p.V71fs
c.211_212fs
NM_001190946.3
p.V71_P72insFs
c.213_214insC
NM_001190946.3
p.S76G
c.226A>G