Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
NM_012291.5
p.A25D
c.74C>A
NM_012291.5
p.C2029S
c.6085T>A
NM_012291.5
p.C2029S
c.6086G>C
NM_012291.5
p.S1126A
c.3376T>G
NM_012291.5
p.K1435M
c.4304A>T
NM_012291.5
p.C1607C
c.4821C>T
NM_012291.5
p.R2037H
c.6110G>A
NM_012291.5
p.A116V
c.347C>T
NM_012291.5
p.G304R
c.910G>A
NM_012291.5
p.G304R
c.910G>C
NM_012291.5
p.P578L
c.1733C>T
NM_012291.5
p.R654Q
c.1961G>A