Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_024589.3
p.R157*
c.469C>T
NM_024589.3
p.Q96*
c.286C>T
NM_024589.3
p.Q122insFs
c.366dupA
NM_024589.3
p.K39_E40Splc
c.117+1G>T
NM_024589.3
p.P169delFs
c.507delG
NM_024589.3
p.L77delFs
c.229_230delAG
NM_024589.3
p.T177_R178Splc
c.531+5G>C
NM_024589.3
p.T177_R178Splc
c.532-2A>T
NM_024589.3
p.G229_A230del2
c.685_689del6
NM_024589.3
p.A123fs
c.367_368fs
NM_024589.3
p.E170fs
c.508_509fs
NM_024589.3
p.G67Splc
c.201-1G>T