Papers
RefSeq ID
Protein change
DNA change
1–12 of 1383 variants
NM_001114753.3
p.R93*
c.277C>T
NM_001114753.3
p.Y120_N121Splc
c.360+1G>A
NM_001114753.3
p.D366H
c.1096G>C
NM_001114753.3
p.L69L
c.207G>A
NM_001114753.3
p.R171*
c.511C>T
NM_001114753.3
p.C53R
c.157T>C
NM_001114753.3
p.P131L
c.392C>T
NM_001114753.3
p.G191D
c.572G>A
NM_001114753.3
p.W149C
c.447G>C
NM_001114753.3
p.W149C
c.447G>T
NM_001114753.3
p.T5M
c.14C>T
NM_001114753.3
p.W196*
c.587G>A