Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_014589.3
p.R118H
c.353G>A
NM_014589.3
p.K34N
c.102G>T
NM_014589.3
p.K34N
c.102G>C
NM_014589.3
p.I48F
c.142A>T
NM_014589.3
p.S51F
c.152C>T
NM_014589.3
p.D66N
c.196G>A
NM_014589.3
p.G97S
c.289G>A
NM_014589.3
p.Q102R
c.305A>G
NM_014589.3
p.E107G
c.320A>G
NM_014589.3
p.R125S
c.373C>A
NM_014589.3
p.R125H
c.374G>A
NM_014589.3
p.L134L
c.400C>T