Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_003414.6
p.S711T
c.2132G>C
NM_003414.6
p.V11I
c.31G>A
NM_003414.6
p.R568Q
c.1703G>A
NM_003414.6
p.R658K
c.1973G>A
NM_003414.6
p.F6F
c.18C>T
NM_003414.6
p.K26R
c.77A>G
NM_003414.6
p.R114K
c.341G>A
NM_003414.6
p.S146N
c.437G>A
NM_003414.6
p.T170I
c.509C>T
NM_003414.6
p.L203V
c.607C>G
NM_003414.6
p.Y206H
c.616T>C
NM_003414.6
p.R207Q
c.620G>A