Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_006753.6
p.R163W
c.487C>T
NM_006753.6
p.T175M
c.524C>T
NM_006753.6
p.R330C
c.988C>T
NM_006753.6
p.A2A
c.6C>T
NM_006753.6
p.A6T
c.16G>A
NM_006753.6
p.S69F
c.206C>T
NM_006753.6
p.D102H
c.304G>C
NM_006753.6
p.R118Q
c.353G>A
NM_006753.6
p.L137P
c.410T>C
NM_006753.6
p.P139fs
c.415_416fs
NM_006753.6
p.P139delFs
c.417delA
NM_006753.6
p.A141V
c.422C>T