Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_001198533.2
p.K31K
c.93G>A
NM_001198533.2
p.S367*
c.1100C>A
NM_001198533.2
p.S367*
c.1100C>G
NM_001198533.2
p.S442fs
c.1324_1325fs
NM_001198533.2
p.K78R
c.233A>G
NM_001198532.1
p.S367*
c.1100C>A
NM_001198532.1
p.S367*
c.1100C>G
NM_001198534.1
p.W5*
c.14G>A
NM_001198534.1
p.W5*
c.15G>A
NM_001198533.2
p.W8Splc
c.24-3622G>A
NM_001198533.2
p.I18I
c.54T>A
NM_001198533.2
p.Q35K
c.103C>A