Papers
RefSeq ID
Protein change
DNA change
1–12 of 246 variants
NM_004039.3
p.M1T
c.2T>C
NM_004039.3
p.G50Splc
c.148+1G>A
NM_004039.3
p.V98L
c.292G>T
NM_004039.3
p.V98L
c.292G>C
NM_004039.3
p.E6V
c.17A>T
NM_004039.3
p.N41T
c.122A>C
NM_004039.3
p.E53A
c.158A>C
NM_004039.3
p.K176_G177Splc
c.529-1G>A
NM_004039.3
p.S184_V185insFs
c.552_553ins4
NM_004039.3
p.R196_D197Splc
c.589-1G>C
NM_004039.3
p.Y235S
c.704A>C
NM_004039.3
p.M1V
c.1A>G