Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_021828.5
p.R153*
c.457C>T
NM_021828.5
p.N489delFs
c.1465_1466delTT
NM_021828.5
p.N543I
c.1628A>T
NM_021828.5
p.P19insFs
c.57dupC
NM_021828.5
p.A458_H460delFs
c.1374_1378del5
NM_021828.5
p.R506*
c.1516C>T
NM_021828.5
p.Y211H
c.631T>C
NM_021828.5
p.K467M
c.1400A>T
NM_021828.5
p.R472*
c.1414C>T
NM_021828.5
p.Y579F
c.1736A>T
NM_021828.5
p.A20fs
c.58_59fs
NM_021828.5
p.L81fs
c.241_242fs