Papers
RefSeq ID
Protein change
DNA change
1–12 of 120 variants
NM_014055.4
p.R512*
c.1534C>T
NM_014055.4
p.L262*
c.785T>G
NM_014055.4
p.D672_R673delFs
c.2015_2019del5
NM_014055.4
p.D672fs
c.2014_2015fs
NM_014055.4
p.L29F
c.87G>C
NM_014055.4
p.L29F
c.87G>T
NM_014055.4
p.L435del1
c.1303_1304delCTT
NM_014055.4
p.R481*
c.1441C>T
NM_014055.4
p.L614P
c.1841T>C
NM_014055.4
p.R64*
c.190C>T
NM_014055.4
p.R120H
c.359G>A
NM_014055.4
p.L122*
c.365T>A