Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_001099652.2
p.V248I
c.742G>A
NM_001099652.2
p.A11T
c.31G>A
NM_001099652.2
p.G28V
c.83G>T
NM_001099652.2
p.L72L
c.216C>A
NM_001099652.2
p.C89S
c.265T>A
NM_001099652.2
p.C89S
c.266G>C
NM_001099652.2
p.R114W
c.340C>T
NM_001099652.2
p.P115L
c.344C>T
NM_001099652.2
p.G169G
c.507C>A
NM_001099652.2
p.L197S
c.590T>C
NM_001099652.2
p.R204*
c.610C>T
NM_001099652.2
p.I223L
c.667A>C