Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_002688.6
p.R308R
c.924C>T
NM_002688.6
p.M1K
c.2T>A
NM_002688.6
p.M1T
c.2T>C
NM_002688.6
p.M1_S2insFs
c.3_4insA
NM_002688.6
p.A12A
c.36G>A
NM_002688.6
p.Q18_D19Splc
c.55-1037C>A
NM_002688.6
p.S38A
c.112T>G
NM_002688.6
p.G51Splc
c.151+2T>C
NM_002688.6
p.S58Y
c.173C>A
NM_002688.6
p.L102L
c.306G>A
NM_002688.6
p.G113W
c.337G>T
NM_002688.6
p.T119fs
c.355_356fs