Papers
RefSeq ID
Protein change
DNA change
1–12 of 133 variants
NM_015028.4
p.K54R
c.161A>G
NM_015028.4
p.R180*
c.538C>T
NM_015028.4
p.S3_D4ins1
c.9_10insTTT
NM_015028.4
p.R43P
c.128G>C
NM_015028.4
p.W661*
c.1982G>A
NM_015028.4
p.W661*
c.1983G>A
NM_015028.4
p.E907A
c.2720A>C
NM_015028.4
p.R949H
c.2846G>A
NM_015028.4
p.P6S
c.16C>T
NM_015028.4
p.D11H
c.31G>C
NM_015028.4
p.G34R
c.100G>C
NM_015028.4
p.G34R
c.100G>A