Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_025103.4
p.F562Splc
c.1685-1G>T
NM_025103.4
p.Q124delFs
c.371_372delAA
NM_025103.4
p.F371_I372del2
c.1111_1115del6
NM_025103.4
p.Q179E
c.535C>G
NM_025103.4
p.Q342*
c.1024C>T
NM_025103.4
p.G86S
c.256G>A
NM_025103.4
p.Q124fs
c.370_371fs
NM_025103.4
p.R29*
c.85C>T
NM_025103.4
p.E285*
c.853G>T
NM_025103.4
p.L31delFs
c.92delT
NM_025103.4
p.R102Splc
c.306-24A>G
NM_025103.4
p.I55L
c.163A>C