Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
NM_006591.3
p.R300delFs
c.898delA
NM_006591.3
p.R300fs
c.898_899fs
NM_006591.3
p.I10T
c.29T>C
NM_006591.3
p.I20_V21Splc
c.60+1G>C
NM_006591.3
p.I20_V21Splc
c.61-2A>G
NM_006591.3
p.Q184_V185insFs
c.552_553ins4
NM_006591.3
p.R300Splc
c.900-1G>C
NM_006591.3
p.K373T
c.1118A>C
NM_006591.3
p.L393V
c.1177C>G
NM_006591.3
p.E82K
c.244G>A
NM_006591.3
p.E156G
c.467A>G
NM_006591.3
p.A215G
c.644C>G