Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_001007089.4
p.E30D
c.90G>T
NM_001007089.4
p.E30D
c.90G>C
NM_001007089.4
p.E53K
c.157G>A
NM_001007089.4
p.E170K
c.508G>A
NM_001007089.4
p.A175T
c.523G>A
NM_001007089.4
p.D4N
c.10G>A
NM_001007089.4
p.E6Splc
c.17+153C>G
NM_001007089.4
p.E6Splc
c.17+211T>C
NM_001007089.4
p.E6Splc
c.18-32G>C
NM_001007089.4
p.V24L
c.70G>T
NM_001007089.4
p.V24L
c.70G>C
NM_001007089.4
p.G41E
c.122G>A