Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_001212.4
p.F204L
c.610T>C
NM_001212.4
p.F204L
c.612C>G
NM_001212.4
p.F204L
c.612C>A
NM_001212.4
p.L275F
c.823C>T
NM_001212.4
p.C186S
c.557G>C
NM_001212.4
p.G247W
c.739G>T
NM_001212.4
p.C186S
c.556T>A
NM_001212.4
p.Y188del1
c.562_563delATA
NM_001212.4
p.T130M
c.389C>T
NM_001212.4
p.L275P
c.824T>C
NM_001212.4
p.T40fs
c.118_119fs
NM_001212.4
p.V248A
c.743T>C