Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_018149.7
p.H208R
c.623A>G
NM_018149.7
p.K147insFs
c.441dupA
NM_018149.7
p.H186Q
c.558C>A
NM_018149.7
p.H186Q
c.558C>G
NM_018149.7
p.D220V
c.659A>T
NM_018149.7
p.G375insFs
c.1125dupG
NM_018149.7
p.R387*
c.1159C>T
NM_018149.7
p.A529S
c.1585G>T
NM_018149.7
p.R839*
c.2515C>T
NM_018149.7
p.V5M
c.13G>A
NM_018149.7
p.L11L
c.31C>T
NM_018149.7
p.A14V
c.41C>T