Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_022075.5
p.E115A
c.344A>C
NM_022075.5
p.R28*
c.82C>T
NM_022075.5
p.Q3insFs
c.7dupC
NM_022075.5
p.A34T
c.100G>A
NM_022075.5
p.L50F
c.148C>T
NM_022075.5
p.R53P
c.158G>C
NM_022075.5
p.T62I
c.185C>T
NM_022075.5
p.I70delFs
c.209_210delTA
NM_022075.5
p.E72K
c.214G>A
NM_022075.5
p.Y88C
c.263A>G
NM_022075.5
p.E101K
c.301G>A
NM_022075.5
p.L102F
c.304C>T