Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_012087.4
p.P170L
c.509C>T
NM_012087.4
p.G506V
c.1517G>T
NM_012087.4
p.R261C
c.781C>T
NM_012087.4
p.L8insFs
c.23dupT
NM_012087.4
p.L8fs
c.22_23fs
NM_012087.4
p.Y29*
c.87C>A
NM_012087.4
p.R59S
c.177G>C
NM_012087.4
p.R59S
c.177G>T
NM_012087.4
p.P73S
c.217C>T
NM_012087.4
p.R87C
c.259C>T
NM_012087.4
p.R94W
c.280C>T
NM_012087.4
p.R94Q
c.281G>A