Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_001130058.2
p.I344L
c.1030A>C
NM_001130058.2
p.G410E
c.1229G>A
NM_001130058.2
p.D138E
c.414C>G
NM_001130058.2
p.D138E
c.414C>A
NM_001130058.2
p.R146H
c.437G>A
NM_001130058.2
p.R507Q
c.1520G>A
NM_001130058.2
p.A640S
c.1918G>T
NM_001130058.2
p.M1I
c.3G>T
NM_001130058.2
p.M1I
c.3G>C
NM_001130058.2
p.M1I
c.3G>A
NM_001130058.2
p.E5Splc
c.13+44202G>A
NM_001130058.2
p.E5Splc
c.14-28120A>G