Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_013246.3
p.R197L
c.590G>T
NM_013246.3
p.C16R
c.46T>C
NM_013246.3
p.Y107*
c.321C>G
NM_013246.3
p.Y107*
c.321C>A
NM_013246.3
p.R102Q
c.305G>A
NM_013246.3
p.*226R
c.676T>C
NM_013246.3
p.G6Splc
c.17-2935G>A
NM_013246.3
p.M11V
c.31A>G
NM_013246.3
p.L15insFs
c.45dupG
NM_013246.3
p.C16S
c.46T>A
NM_013246.3
p.C16S
c.47G>C
NM_013246.3
p.M11_V18delFs
c.31_53del23