Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001005166.5
p.D72D
c.216T>C
NM_001005166.5
p.K82N
c.246G>C
NM_001005166.5
p.K82N
c.246G>T
NM_001005166.5
p.F87I
c.259T>A
NM_001005166.5
p.A98D
c.293C>A
NM_001005166.5
p.I100S
c.299T>G
NM_001005166.5
p.I165T
c.494T>C
NM_001005166.5
p.F170C
c.509T>G
NM_001005166.5
p.V173F
c.517G>T
NM_001005166.5
p.R222Q
c.665G>A
NM_001005166.5
p.P234L
c.701C>T
NM_001005166.5
p.H243Q
c.729C>A