Papers
RefSeq ID
Protein change
DNA change
1–12 of 316 variants
NM_000567.3
p.E148Q
c.442G>C
NM_000567.3
p.E80K
c.238G>A
NM_000567.3
p.T59M
c.176C>T
NM_000567.3
p.T191S
c.572C>G
NM_000567.3
p.H15Q
c.45T>G
NM_000567.3
p.V125E
c.374T>A
NM_000567.3
p.P30L
c.89C>T
NM_000567.3
p.K41E
c.121A>G
NM_000567.3
p.K41Q
c.121A>C
NM_000567.3
p.G166E
c.497G>A
NM_000567.3
p.S167G
c.499A>G
NM_000567.3
p.L203M
c.607C>A