Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_203379.2
p.M182V
c.544A>G
NM_203379.2
p.G466E
c.1397G>A
NM_016234.4
p.Q693_V694Splc
c.2079+7G>A
NM_203379.2
p.L2F
c.4C>T
NM_203379.2
p.L8V
c.22T>G
NM_203379.2
p.T22I
c.65C>T
NM_203379.2
p.T33T
c.99C>G
NM_016234.4
p.V94I
c.280G>A
NM_203379.2
p.G58E
c.173G>A
NM_203379.2
p.G58A
c.173G>C
NM_203379.2
p.G84G
c.252A>G
NM_203379.2
p.L118_G119del1
c.354_356delGGG