Papers
RefSeq ID
Protein change
DNA change
1–12 of 211 variants
NM_003465.3
p.G102S
c.304G>A
NM_003465.3
p.E409G
c.1226A>G
NM_003465.3
p.G354R
c.1060G>C
NM_003465.3
p.G354R
c.1060G>A
NM_003465.3
p.A442V
c.1325C>T
NM_003465.3
p.A442G
c.1325C>G
NM_003465.3
p.K350_W358ins3
c.1049_1072dup24
NM_003465.3
p.W358*
c.1073G>A
NM_003465.3
p.W358*
c.1074G>A
NM_003465.3
p.G19Splc
c.55+1G>A
NM_003465.3
p.R40H
c.119G>A
NM_003465.3
p.P48R
c.143C>G