Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001364689.3
p.R1094C
c.3280C>T
NM_001364689.3
p.E44Q
c.130G>C
NM_001364689.3
p.R50R
c.150G>T
NM_001364689.3
p.A81G
c.242C>G
NM_001364689.3
p.A133_A134insFs
c.399_400insC
NM_001364689.3
p.G137R
c.409G>C
NM_001364689.3
p.R165H
c.494G>A
NM_001364689.3
p.E168delFs
c.504delC
NM_001364689.3
p.R210delFs
c.629_630delCC
NM_001364689.3
p.E251A
c.752A>C
NM_001364689.3
p.G317S
c.949G>A
NM_001364689.3
p.P358S
c.1072C>T