Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_014234.5
p.Q90_A91Splc
c.270+25T>C
NM_014234.5
p.V158L
c.472G>C
NM_014234.5
p.V158L
c.472G>T
NM_014234.5
p.G24S
c.70G>A
NM_014234.5
p.T37T
c.111C>A
NM_014234.5
p.L43L
c.129G>A
NM_014234.5
p.A46T
c.136G>A
NM_014234.5
p.E50K
c.148G>A
NM_014234.5
p.G56D
c.167G>A
NM_014234.5
p.G57delFs
c.169delG
NM_014234.5
p.R80M
c.239G>T
NM_014234.5
p.P97A
c.289C>G