Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
NM_001122646.3
p.I99M
c.297A>G
NM_001122646.3
p.V55A
c.164T>C
NM_001122646.3
p.E152K
c.454G>A
NM_001122646.3
p.P359T
c.1075C>A
NM_001122646.3
p.D360Splc
c.1079-7103C>A
NM_001122646.3
p.D413D
c.1239C>T
NM_001122646.3
p.P439L
c.1316C>T
NM_001122646.3
p.R464C
c.1390C>T
NM_001122646.3
p.M1K
c.2T>A
NM_001122646.3
p.R15K
c.44G>A
NM_001122646.3
p.D18N
c.52G>A
NM_001122646.3
p.T24I
c.71C>T