Papers
RefSeq ID
Protein change
DNA change
1–12 of 107 variants
NM_005869.4
p.P256A
c.766C>G
NM_005869.4
p.E165E
c.495G>A
NM_005869.4
p.K200Splc
c.599+1G>A
NM_005869.4
p.Q7*
c.19C>T
NM_005869.4
p.R143*
c.427C>T
NM_005869.4
p.S206*
c.617C>A
NM_005869.4
p.S206*
c.617C>G
NM_005869.4
p.E315*
c.943G>T
NM_005869.4
p.K334insFs
c.1002dupA
NM_005869.4
p.R119*
c.355C>T
NM_005869.4
p.A295V
c.884C>T
NM_005869.4
p.V335fs
c.1003_1004fs