Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_018463.4
p.G283Splc
c.848-1G>A
NM_018463.4
p.T66S
c.196A>T
NM_018463.4
p.T66S
c.197C>G
NM_018463.4
p.Q121*
c.361C>T
NM_018463.4
p.E158*
c.472G>T
NM_018463.4
p.P235insFs
c.704dupC
NM_018463.4
p.A236fs
c.706_707fs
NM_018463.4
p.R238*
c.712C>T
NM_018463.4
p.M1T
c.2T>C
NM_018463.4
p.R2G
c.4A>G
NM_018463.4
p.R9insFs
c.27dupC
NM_018463.4
p.S15_G16delFs
c.44_47del4