Papers
RefSeq ID
Protein change
DNA change
1–12 of 273 variants
NM_021628.3
p.R234*
c.700C>T
NM_021628.3
p.P630L
c.1889C>T
NM_021628.3
p.R396S
c.1186C>A
NM_021628.3
p.V500F
c.1498G>T
NM_021628.3
p.L237M
c.709T>A
NM_021628.3
p.Y13*
c.39C>G
NM_021628.3
p.Y13*
c.39C>A
NM_021628.3
p.R145H
c.434G>A
NM_001165960.1
p.R272*
c.814C>T
NM_021628.3
p.R145H
c.434G>A
NM_021628.3
p.A227Splc
c.680+1G>A
NM_021628.3
p.G281V
c.842G>T