Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_001013630.2
p.H172D
c.514C>G
NM_001013630.2
p.G195R
c.583G>A
NM_001013630.2
p.G195R
c.583G>C
NM_001013630.2
p.R264H
c.791G>A
NM_001013630.2
p.A266T
c.796G>A
NM_001013630.2
p.E314D
c.942A>C
NM_001013630.2
p.E314D
c.942A>T
NM_001013630.2
p.W5C
c.15G>C
NM_001013630.2
p.W5C
c.15G>T
NM_001013630.2
p.V7V
c.21G>A
NM_001013630.2
p.D32E
c.96T>A
NM_001013630.2
p.L56F
c.168G>C