Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
NM_001172303.3
p.E167D
c.501G>C
NM_001172303.3
p.E167D
c.501G>T
NM_001172303.3
p.R43Q
c.128G>A
NM_001172303.3
p.S597F
c.1790C>T
NM_001172303.3
p.V610I
c.1828G>A
NM_001172303.3
p.P40T
c.118C>A
NM_001172303.3
p.P40S
c.118C>T
NM_001172303.3
p.G44S
c.130G>A
NM_001172303.3
p.D537N
c.1609G>A
NM_001172303.3
p.P620A
c.1858C>G
NM_001172303.3
p.S31C
c.92C>G
NM_001172303.3
p.R43L
c.128G>T