Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_014288.5
p.M1insFs
c.2_3insC
NM_014288.5
p.P2Splc
c.5+9C>T
NM_014288.5
p.K26fs
c.76_77fs
NM_014288.5
p.K26*
c.76A>T
NM_014288.5
p.K26fs
c.76_77fs
NM_014288.5
p.E62Splc
c.184+4A>C
NM_014288.5
p.K66*
c.196A>T
NM_014288.5
p.K66fs
c.196_197fs
NM_014288.5
p.E74Q
c.220G>C
NM_014288.5
p.E77K
c.229G>A
NM_014288.5
p.M87V
c.259A>G
NM_014288.5
p.E94*
c.280G>T