Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001348543.2
p.R12C
c.34C>T
NM_001348543.2
p.A30S
c.88G>T
NM_001348543.2
p.W48*
c.143G>A
NM_001348543.2
p.W48*
c.144G>A
NM_001348543.2
p.L65L
c.193C>T
NM_001348543.2
p.R68H
c.203G>A
NM_001348543.2
p.R70C
c.208C>T
NM_001348543.2
p.L73P
c.218T>C
NM_001348543.2
p.R76C
c.226C>T
NM_001348543.2
p.R76L
c.227G>T
NM_001348543.2
p.R96S
c.286C>A
NM_001348543.2
p.A100T
c.298G>A