Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_014231.5
p.R33*
c.97C>T
NM_014231.5
p.R68*
c.202C>T
NM_014231.5
p.I114Splc
c.340+2T>G
NM_014231.5
p.I114delFs
c.340delT
NM_014231.5
p.P22delFs
c.66delA
NM_014231.5
p.R49P
c.146G>C
NM_199245.3
p.S114R
c.340A>C
NM_199245.3
p.S114R
c.342T>G
NM_199245.3
p.S114R
c.342T>A
NM_014231.5
p.G18fs
c.52_53fs
NM_014231.5
p.P17_P22delFs
c.51_64del14
NM_014231.5
p.G23fs
c.67_68fs