Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
NM_001004473.2
p.G193S
c.577G>A
NM_001004473.2
p.I126M
c.378C>G
NM_001004473.2
p.Y259*
c.777C>A
NM_001004473.2
p.V8fs
c.22_23fs
NM_001004473.2
p.V14I
c.40G>A
NM_001004473.2
p.L32L
c.96G>C
NM_001004473.2
p.L36M
c.106C>A
NM_001004473.2
p.I49T
c.146T>C
NM_001004473.2
p.S69S
c.207T>G
NM_001004473.2
p.I71F
c.211A>T
NM_001004473.2
p.K89*
c.265A>T
NM_001004473.2
p.T91T
c.273C>A