Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_001722.3
p.P18H
c.53C>A
NM_001722.3
p.N5D
c.13A>G
NM_001722.3
p.P18A
c.52C>G
NM_001722.3
p.R29W
c.85C>T
NM_001722.3
p.G38A
c.113G>C
NM_001722.3
p.P181S
c.541C>T
NM_001722.3
p.V219Splc
c.656-6G>A
NM_001722.3
p.P223S
c.667C>T
NM_001722.3
p.M1insFs
c.2dupT
NM_001722.3
p.M1I
c.3G>A
NM_001722.3
p.A6P
c.16G>C
NM_001722.3
p.G8G
c.24C>A