Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001252.5
p.E51*
c.151G>T
Surrounding Variants
NM_001252.5
p.L53F
c.157C>T
NM_001252.5
p.L48Q
c.143T>A
NM_001252.5
p.G54E
c.161G>A
NM_001252.5
p.Q47R
c.140A>G
NM_001252.5
p.Q47*
c.139C>T
NM_001252.5
p.A44_G54del0
c.130_162del33
NM_001252.5
p.Q45*
c.133C>T
NM_001252.5
p.A44T
c.130G>A
NM_001252.5
p.Q43_A44delins
c.129_130delinsAA
NM_001252.5
p.Q43*
c.127C>T
NM_001252.5
p.I38_F41delFs
c.114_123del10
NM_001252.5
p.R40R
c.120C>G