Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001321.3
p.G5E
c.14G>A
NM_001321.3
p.T16T
c.48C>T
NM_001321.3
p.Q24E
c.70C>G
NM_001321.3
p.R32C
c.94C>T
NM_001321.3
p.S46R
c.136A>C
NM_001321.3
p.S46R
c.138C>G
NM_001321.3
p.S46R
c.138C>A
NM_001321.3
p.A50T
c.148G>A
NM_001321.3
p.Y57S
c.170A>C
NM_001321.3
p.C58G
c.172T>G
NM_001321.3
p.Y66C
c.197A>G
NM_001321.3
p.K69*
c.205A>T