Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_080476.5
p.N383K
c.1149C>G
NM_080476.5
p.N383K
c.1149C>A
NM_080476.5
p.I70K
c.209T>A
NM_080476.5
p.I86R
c.257T>G
NM_080476.5
p.G333E
c.998G>A
NM_080476.5
p.A2insFs
c.5dupC
NM_080476.5
p.S22A
c.64T>G
NM_080476.5
p.S23R
c.67A>C
NM_080476.5
p.S23R
c.69T>G
NM_080476.5
p.S23R
c.69T>A
NM_080476.5
p.G47D
c.140G>A
NM_080476.5
p.L48F
c.142C>T