Papers
RefSeq ID
Protein change
DNA change
1–12 of 160 variants
NM_006412.4
p.Q196_V197Splc
c.589-2A>G
NM_006412.4
p.R68*
c.202C>T
NM_006412.4
p.K216*
c.646A>T
NM_006412.4
p.L228P
c.683T>C
NM_006412.4
p.G136R
c.406G>A
NM_006412.4
p.G136R
c.406G>C
NM_006412.4
p.E172K
c.514G>A
NM_006412.4
p.G221Splc
c.662-2A>C
NM_006412.4
p.A239V
c.716C>T
NM_006412.4
p.N164_L165Splc
c.493-1G>C
NM_006412.4
p.E229*
c.685G>T
NM_006412.4
p.E88G
c.263A>G