Papers
RefSeq ID
Protein change
DNA change
1–12 of 104 variants
NM_001135629.3
p.R697*
c.2089C>T
NM_001135629.3
p.R143*
c.427C>T
NM_001135629.3
p.G30fs
c.88_89fs
NM_001135629.3
p.K29_G30delFs
c.87_88delAG
NM_001135629.3
p.K688fs
c.2062_2063fs
NM_001135629.3
p.I116delFs
c.347delT
NM_001135629.3
p.I116fs
c.346_347fs
NM_001135629.3
p.L536insFs
c.1607dupT
NM_001135629.3
p.L536fs
c.1606_1607fs
NM_001135629.3
p.K688delFs
c.2063delA
NM_001135629.3
p.I724fs
c.2170_2171fs
NM_001135629.3
p.R65*
c.193C>T